Allele Registry

Canonical Allele Identifier: PA2826740759

Gene: BLM HGNC NCBI

ClinVar Allele:

465538

ClinVar RCV:

RCV000553465

RCV001013273

ClinVar Variation:

454087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Pro234Thr	CA7738589 NM_001287248.2:c.700C>A