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: PA2829678746

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2059411

ClinVar RCV Id: RCV002952785 RCV003157305

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr549Ser	CA10598742 NM_007294.4:c.1646C>G CA10598744 NM_007294.4:c.1645A>T