Allele Registry

Canonical Allele Identifier: PA275341

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179329

RCV000674497

RCV000700960

RCV001248982

RCV003955080

ClinVar Variation:

198095

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg498Cys	CA275340 NM_000543.5:c.1492C>T