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: PA916000307

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55028

ClinVar RCV Id: RCV000112200 RCV000130141 RCV000235129 RCV000985409 RCV001486131 RCV001358396

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.His1283Arg	CA002479 NM_007300.4:c.3848A>G