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: PA2829700169

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 182080

ClinVar RCV Id: RCV000159851

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Asp332Glu	CA002759 NM_007298.3:c.996C>G CA10593110 NM_007298.3:c.996C>A