Canonical Allele Identifier: PA2826738146
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454124
ClinVar RCV Id: RCV000544576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Cys989Arg
CA393846513
NM_001287246.2:c.2965T>C