HGVS nomenclature (P3331)
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Sequence Variant Nomenclature from the Human Genome Variation Society (HGVS)
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | HGVS nomenclature |
Sequence Variant Nomenclature from the Human Genome Variation Society (HGVS) |
Data type
External identifier
Statements
http://reg.clinicalgenome.org/allele?hgvs=$1
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Constraints
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([NX][A-Z]_\d+|ENST\d+|(CM000674.|chr)\d+:g)\.\d.+|
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