Canonical Allele Identifier: PA2825040230
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 3017297
ClinVar RCV Id: RCV003871416

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Arg330Gly
CA393842038
NM_000057.4:c.988A>G