Allele Registry

Canonical Allele Identifier: PA2828169450

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281423

RCV003235538

ClinVar Variation:

992707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Tyr425Cys	CA379375121 NM_001365135.1:c.1274A>G