Canonical Allele Identifier: PA2829691158
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54551
ClinVar RCV Id: RCV000047818 RCV000111839 RCV000167276 RCV000240714 RCV000588791 RCV001778691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Thr749Ile
CA001583
NM_007297.4:c.2246C>T