Human Genome Variation Society (HGVS) Nomenclature

Ontology CARD's Antibiotic Resistance Ontology
Accession ARO:3009158
DefinitionThe HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA, and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases (https://hgvs-nomenclature.org/stable).
Classification1 ontology terms | Show
Parent Term(s)1 ontology terms | Show
Publications

Hart RK, et al. 2024. Genome Med 16(1):149 HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. (PMID 39702242)

den Dunnen JT, et al. 2016. Hum Mutat 37(6):564-9 HGVS Recommendations for the Description of Sequence Variants: 2016 Update. (PMID 26931183)

Curator Acknowledgements
Curator Description Most Recent Edit