Allele Registry

Canonical Allele Identifier: PA658678076

Gene: BLM HGNC NCBI

ClinVar Allele:

465538

ClinVar RCV:

RCV000553465

RCV001013273

ClinVar Variation:

454087

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Pro609Thr	CA7738589 NM_000057.4:c.1825C>A