Allele Registry

Canonical Allele Identifier: PA916016124

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115291

RCV000562292

RCV000656782

RCV001080005

ClinVar Variation:

127484

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ser778Cys	CA287068 NM_001287247.2:c.2333C>G