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: PA2829693675

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496373

ClinVar RCV Id: RCV000586393 RCV002532357

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ala1246del	CA658684103 NM_007297.4:c.3736_3738del