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: PA916022258

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003114

RCV000192227

RCV000413382

RCV000526587

RCV000984008

RCV002013686

RCV004018542

ClinVar Variation:

2980

1507898

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Val505Leu	CA252505 NM_001318087.2:c.1513G>T CA379375760 NM_001318087.2:c.1513G>C