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: PA2829688744

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 837806

ClinVar RCV Id: RCV001039220 RCV003158304

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser387Arg	CA10599450 NM_007297.4:c.1161T>G CA10599451 NM_007297.4:c.1161T>A CA10599456 NM_007297.4:c.1159A>C