Allele Registry

Canonical Allele Identifier: PA916015859

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628642

RCV002438627

ClinVar Variation:

524779

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.His374Arg	CA7738468 NM_001287247.2:c.1121A>G