Allele Registry

Canonical Allele Identifier: PA2826741281

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000697084

RCV002424667

ClinVar Variation:

575003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Pro493Arg	CA7738826 NM_001287248.2:c.1478C>G