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: PA194255

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186252

ClinVar RCV Id: RCV000165814 RCV000203862 RCV000411367 RCV000759525 RCV001170594 RCV001193747 RCV001354503 RCV002485026

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ser1253Cys	CA002409 NM_007294.4:c.3758C>G