Allele Registry

Canonical Allele Identifier: PA2828169669

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179323

RCV000259165

RCV001084948

RCV001107857

ClinVar Variation:

198092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Pro489Leu	CA246587 NM_001365135.1:c.1466C>T