Allele Registry

Canonical Allele Identifier: PA2825288721

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179328

RCV000962425

RCV001081864

RCV001107855

RCV001249037

RCV001786338

RCV003967440

ClinVar Variation:

198094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Glu516Val	CA246589 NM_001007593.3:c.1547A>T