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: PA2829688530

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060748

ClinVar RCV Id: RCV001370216 RCV004037460

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Asp353Asn	CA10599656 NM_007297.4:c.1057G>A