Allele Registry

Canonical Allele Identifier: PA2828169554

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003114

RCV000192227

RCV000413382

RCV000526587

RCV000984008

RCV004018542

ClinVar Variation:

2980

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Arg454Leu	CA252505 NM_001365135.1:c.1361G>T