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: PA1139728909

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948211

ClinVar RCV Id: RCV001219425 RCV003158526

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Arg365Lys	CA10599872 NM_007300.4:c.1094G>A