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: PA2829678366

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1722233

ClinVar RCV Id: RCV002295249 RCV003157196

ClinVar Variation Id: 2450665

ClinVar RCV Id: RCV003177111

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.His437Gln	CA10599430 NM_007294.4:c.1311T>G CA10599431 NM_007294.4:c.1311T>A