Allele Registry

Canonical Allele Identifier: PA2826979222

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000169329

RCV001208506

RCV001248877

RCV001781526

ClinVar Variation:

188955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Arg295His	CA274179 NM_001318088.2:c.884G>A