Allele Registry

Canonical Allele Identifier: PA2826736629

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000529811

RCV001017747

RCV003478103

ClinVar Variation:

454167

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.His281Arg	CA393841709 NM_001287246.2:c.842A>G