Allele Registry

Canonical Allele Identifier: PA2826979061

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000169478

RCV000521803

RCV000802459

RCV001249039

ClinVar Variation:

189075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Pro170Leu	CA274348 NM_001318088.2:c.509C>T