Allele Registry

Canonical Allele Identifier: PA347288

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000192220

RCV001004576

RCV001194004

RCV001852412

RCV003488441

ClinVar Variation:

203425

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Ala198Pro	CA347287 NM_000543.5:c.592G>C