Allele Registry

Canonical Allele Identifier: PA2825206123

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV003062330

ClinVar Variation:

2136993

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Ala484Val	CA217302415 NM_000543.5:c.1451C>T