Allele Registry

Canonical Allele Identifier: PA916022248

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000436575

RCV000984224

RCV001248879

RCV001810448

RCV003114556

RCV003313954

RCV003959931

ClinVar Variation:

385606

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Arg476Gln	CA5852891 NM_001318087.2:c.1427G>A