Allele Registry

Canonical Allele Identifier: PA2828169517

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000514622

RCV000780733

RCV001004370

RCV001247838

RCV001248880

RCV001579139

RCV002527432

RCV003942677

ClinVar Variation:

445832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Gly448Ser	CA5852897 NM_001365135.1:c.1342G>A