Allele Registry

Canonical Allele Identifier: PA2825288339

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000192220

RCV001004576

RCV001194004

RCV001852412

RCV003488441

ClinVar Variation:

203425

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Ala197Pro	CA347287 NM_001007593.3:c.589G>C