Allele Registry

Canonical Allele Identifier: PA916022254

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000514622

RCV000780733

RCV001004370

RCV001247838

RCV001248880

RCV001579139

RCV002527432

RCV003942677

ClinVar Variation:

445832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Gly492Ser	CA5852897 NM_001318087.2:c.1474G>A