Allele Registry

Canonical Allele Identifier: PA157435

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120243

RCV000540157

RCV000569169

ClinVar Variation:

133711

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Thr283Ala	CA157433 NM_000057.4:c.847A>G