Allele Registry

Canonical Allele Identifier: PA2826979092

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179329

RCV000674497

RCV000700960

RCV001248982

RCV003955080

ClinVar Variation:

198095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Arg191Cys	CA275340 NM_001318088.2:c.571C>T