Allele Registry

Canonical Allele Identifier: PA2826979096

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003114

RCV000192227

RCV000413382

RCV000526587

RCV000984008

RCV004018542

ClinVar Variation:

2980

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Arg191Leu	CA252505 NM_001318088.2:c.572G>T