Canonical Allele Identifier: PA2826740080
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1735916
ClinVar RCV Id: RCV002357418

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gly1167Glu
CA393850440
NM_001287247.2:c.3500G>A