Allele Registry

Canonical Allele Identifier: PA2580199031

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV003062330

ClinVar Variation:

2136993

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Ala484Val	CA217302415 NM_001318087.2:c.1451C>T