Allele Registry

Canonical Allele Identifier: PA916016558

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628682

RCV001020473

RCV001800832

RCV003153769

ClinVar Variation:

524814

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Ala794Thr	CA7739047 NM_001287248.2:c.2380G>A