Allele Registry

Canonical Allele Identifier: PA2826741307

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120227

RCV000550035

RCV000567138

RCV000766552

ClinVar Variation:

127489

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Glu505Gln	CA157385 NM_001287248.2:c.1513G>C