Allele Registry

Canonical Allele Identifier: PA2826741280

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001061142

ClinVar Variation:

855803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Pro493Gln	CA393845693 NM_001287248.2:c.1478C>A