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: PA2741935734

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585836

ClinVar RCV Id: RCV003341645

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Lys428Asn	CA10599487 NM_007300.4:c.1284A>T CA10599488 NM_007300.4:c.1284A>C