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: PA2829688559

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481460

ClinVar RCV Id: RCV000560940 RCV002466538 RCV003645033

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser356Pro	CA10599636 NM_007297.4:c.1066T>C