Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA915995829

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187436

ClinVar RCV Id: RCV000167164 RCV000196902 RCV000759566 RCV003995568

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asn329Tyr	CA004000 NM_007300.4:c.985A>T