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: PA2829688083

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233381

ClinVar RCV Id: RCV000221259 RCV000475154 RCV000589343

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser288Arg	CA10580685 NM_007297.4:c.864C>A CA10600052 NM_007297.4:c.864C>G CA10600058 NM_007297.4:c.862A>C