Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA252506

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003114

RCV000192227

RCV000413382

RCV000526587

RCV000984008

RCV004018542

ClinVar Variation:

2980

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg498Leu	CA252505 NM_000543.5:c.1493G>T