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: PA2829705593

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3226152

ClinVar RCV Id: RCV004519387

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ser1434Arg	CA10593116 NM_007300.4:c.4302T>G CA10593117 NM_007300.4:c.4302T>A CA10593123 NM_007300.4:c.4300A>C