Allele Registry

Canonical Allele Identifier: PA645503853

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000397745

RCV000674958

RCV000819250

RCV001276409

RCV003417882

ClinVar Variation:

281886

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg3His	CA5852452 NM_000543.5:c.8G>A