Allele Registry

Canonical Allele Identifier: PA2826979069

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV003062330

ClinVar Variation:

2136993

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Ala177Val	CA217302415 NM_001318088.2:c.530C>T