Canonical Allele Identifier: PA268130
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54986
ClinVar RCV Id: RCV000112169 RCV000485104 RCV000562072 RCV001359002 RCV003330417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009225.1:p.Thr1249Ser
CA002399
NM_007294.4:c.3746C>G
CA10594478
NM_007294.4:c.3745A>T