Allele Registry

Canonical Allele Identifier: PA658802489

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628642

RCV002438627

ClinVar Variation:

524779

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.His374Arg	CA7738468 NM_000057.4:c.1121A>G