Allele Registry

Canonical Allele Identifier: PA2825288409

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000087097

RCV000169278

RCV000594578

RCV000689686

RCV001248881

ClinVar Variation:

100731

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Gly246Ser	CA267590 NM_001007593.3:c.736G>A