Allele Registry

Canonical Allele Identifier: PA246588

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

195253

ClinVar RCV:

RCV000179323

RCV000259165

RCV001084948

RCV001107857

ClinVar Variation:

198092

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Pro533Leu	CA246587 NM_000543.5:c.1598C>T