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: PA1139729196

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 853871

ClinVar RCV Id: RCV001058777 RCV002379575

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asp430Gly	CA10599476 NM_007300.4:c.1289A>G