Allele Registry

Canonical Allele Identifier: PA287070

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115291

RCV000562292

RCV000656782

RCV001080005

ClinVar Variation:

127484

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser778Cys	CA287068 NM_000057.4:c.2333C>G