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: PA2829681440

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444399

ClinVar RCV Id: RCV001982395 RCV003156888

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.His1141Gln	CA10595132 NM_007294.4:c.3423T>G CA10595133 NM_007294.4:c.3423T>A