Allele Registry

Canonical Allele Identifier: PA287117

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115312

RCV000699350

RCV001021051

ClinVar Variation:

127504

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Glu1251Gln	CA287115 NM_000057.4:c.3751G>C