Allele Registry

Canonical Allele Identifier: PA916015802

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120243

RCV000540157

RCV000569169

ClinVar Variation:

133711

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Thr283Ala	CA157433 NM_001287247.2:c.847A>G