Allele Registry

Canonical Allele Identifier: PA916045146

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

192252

ClinVar RCV:

RCV000175631

RCV000224205

RCV000383492

RCV001081402

ClinVar Variation:

195091

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Arg296Gln	CA201554 NM_001365135.1:c.887G>A