Canonical Allele Identifier: PA2825041450
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822558
ClinVar RCV Id: RCV001017998

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys1002Arg
CA393846599
NM_000057.4:c.3005A>G