BRCA Exchange
Describing DNA Variants (Mutation Nomenclature) - ScienceDirect
A variant by any name: quantifying annotation discordance across tools and clinical databases | Genome Medicine | Full Text
Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer - ScienceDirect
A variant by any name: quantifying annotation discordance across tools and clinical databases | bioRxiv
Untangling mosquito mutation nomenclature | MalariaGEN
miRNA Nomenclature: A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants: Trends in Genetics
Describing structural changes by extending HGVS sequence variation nomenclature
PDF) HGVS Recommendations for the Description of Sequence Variants: 2016 Update
HGVS Basics
Mutation nomenclature
Sequence Variant Nomenclature
P/LP variants. cDNA and Protein changes are named according to HGVS... | Download Table
Standard Mutation Nomenclature in Molecular Diagnostics: Practical and Educational Challenges - ScienceDirect
![PDF] A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/1c239b2e0b16e540ca5df6cec656132cdd821faf/2-Figure1-1.png "PDF] A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature | Semantic Scholar")
PDF] A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature | Semantic Scholar
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer. | Semantic Scholar
How to read variant information in the rare diseases test reports…
Introduction to Variants and Nomenclature - YouTube
Continued HGVS nomenclature | Download Table
SETH - SNP Extraction Tool for Human Variations
Mutation nomenclature
