Canonical Allele Identifier: PA916016316
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454124
ClinVar RCV Id: RCV000544576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Cys989Arg
CA393846513
NM_001287247.2:c.2965T>C