Allele Registry

Canonical Allele Identifier: PA2825288468

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000175631

RCV000224205

RCV000383492

RCV001081402

ClinVar Variation:

195091

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Arg295Gln	CA201554 NM_001007593.3:c.884G>A