Allele Registry

Canonical Allele Identifier: PA916015744

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000527173

RCV001025303

ClinVar Variation:

454160

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Glu216Lys	CA7738320 NM_001287247.2:c.646G>A