Canonical Allele Identifier: PA2573192098
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1481760
ClinVar RCV Id: RCV002025013
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Gly931Asp
CA393850600
NM_001287248.2:c.2792G>A