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: PA915995833

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37713

ClinVar RCV Id: RCV000031294 RCV000165321 RCV001338193 RCV003321486

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asp330Asn	CA004002 NM_007300.4:c.988G>A