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: PA2829688540

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531230

ClinVar RCV Id: RCV000637378 RCV001525444 RCV004003841

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Gly354Arg	CA10599647 NM_007297.4:c.1060G>C CA10599648 NM_007297.4:c.1060G>A