Canonical Allele Identifier: PA645443722
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54987
ClinVar RCV Id: RCV000112170 RCV000148379 RCV000120296 RCV000162713 RCV000167791 RCV000735477 RCV001811340 RCV001353803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Glu1250Lys
CA002401
NM_007300.4:c.3748G>A