Allele Registry

Canonical Allele Identifier: PA916016636

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115314

RCV000559638

RCV001021470

ClinVar Variation:

127506

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Ala937Thr	CA287121 NM_001287248.2:c.2809G>A