Allele Registry

Canonical Allele Identifier: PA916016457

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115304

RCV001275698

RCV002255286

ClinVar Variation:

127496

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Cys692Tyr	CA287093 NM_001287248.2:c.2075G>A