Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
nomenclature system
|
| gptkbp:appliesTo |
protein variants
DNA variants RNA variants |
| gptkbp:developedBy |
gptkb:Human_Genome_Variation_Society
|
| gptkbp:firstPublished |
2000
|
| gptkbp:hasGuidelines |
HGVS recommendations
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGVS nomenclature
|
| gptkbp:relatedTo |
genomic medicine
variant annotation mutation description |
| gptkbp:standardizedBy |
gptkb:Human_Genome_Variation_Society
|
| gptkbp:usedFor |
describing sequence variants
|
| gptkbp:usedIn |
scientific literature
genetic testing reports |
| gptkbp:website |
https://varnomen.hgvs.org/
|
| gptkbp:bfsParent |
gptkb:Variation_Representation_Specification
|
| gptkbp:bfsLayer |
6
|