Allele Registry

Canonical Allele Identifier: PA2828169485

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV003062330

ClinVar Variation:

2136993

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Ala440Val	CA217302415 NM_001365135.1:c.1319C>T