Canonical Allele Identifier: PA2499245811
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1060697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gln752Lys
CA393844891
NM_001287247.2:c.2254C>A