Allele Registry

Canonical Allele Identifier: PA2826978949

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000454404

RCV000672505

RCV000727004

RCV001242152

RCV001249055

RCV003152604

ClinVar Variation:

403463

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Pro12Ala	CA5852724 NM_001318088.2:c.34C>G