Allele Registry

Canonical Allele Identifier: PA2825288743

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

195253

ClinVar RCV:

RCV000179323

RCV000259165

RCV001084948

RCV001107857

ClinVar Variation:

198092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Pro532Leu	CA246587 NM_001007593.3:c.1595C>T