Allele Registry

Canonical Allele Identifier: PA891866049

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000592728

RCV001087561

RCV001249052

ClinVar Variation:

498584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Arg47His	CA5852755 NM_001318088.2:c.140G>A