Canonical Allele Identifier: PA2825041391
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2748371
ClinVar RCV Id: RCV003504703

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Pro967Arg
CA393846374
NM_000057.4:c.2900C>G