Allele Registry

Canonical Allele Identifier: PA2826979091

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179324

RCV000806406

RCV001248980

RCV001527430

RCV001814072

ClinVar Variation:

167712

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Arg191His	CA234971 NM_001318088.2:c.572G>A