appears_in: []
contact:
  email: reecehart@gmail.com
  github: reece
  name: Reece Hart
  orcid: 0000-0003-3463-0775
contributor:
  email: miseming@sfu.ca
  github: miseminger
  name: Madeline Iseminger
  orcid: 0000-0002-0548-891X
depends_on: []
deprecated: false
description: The 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. The HGVS
  Nomenclature is administered by the [HGVS Variant Nomenclature Committee (HVNC)](https://hgvs-nomenclature.org/stable/hvnc/)
  under the auspices of the [Human Genome Organization (HUGO)](https://hugo-int.org/).
example: NP_003997.1:p.Trp24Cys
example_extras:
- GRCh38(chr11):g.112088970del
- NC_000011.10(NM_001276503.2):c.169+998del
- NC_000011.10:g.112088970del
- NG_012337.3(NM_003002.4):c.274G>T
- NG_012337.3(NM_003002.4):r.(274g>u)
github_request_issue: 1032
homepage: https://hgvs-nomenclature.org/stable/background/simple/
keywords: []
mappings:
  hl7: 2.16.840.1.113883.6.282
  wikidata: P3331
name: Human Genome Variation Society Nomenclature
namespace_in_lui: false
preferred_prefix: hgvs
prefix: hgvs
providers:
- code: mutalyzer
  description: ' The Mutalyzer tool suite is designed to be of help when working with
    HGVS sequence variant nomenclature descriptions.'
  homepage: https://mutalyzer.nl
  name: LUMC Mutalyzer 3
  uri_format: https://mutalyzer.nl/api/description_to_model/$1
publications:
- doi: 10.1002/humu.22981
  pubmed: '26931183'
  title: 'HGVS Recommendations for the Description of Sequence Variants: 2016 Update'
  year: 2016
- doi: 10.1093/bioinformatics/btu630
  pmc: PMC4287946
  pubmed: '25273102'
  title: A Python package for parsing, validating, mapping and formatting sequence
    variants using HGVS nomenclature
  year: 2014
references:
- https://github.com/biopragmatics/bioregistry/issues/460
repository: https://github.com/HGVSnomenclature/hgvs-nomenclature
reviewer:
  email: cthoyt@gmail.com
  github: cthoyt
  name: Charles Tapley Hoyt
  orcid: 0000-0003-4423-4370
synonyms: []
uri_format: http://reg.clinicalgenome.org/allele?hgvs=$1
