Allele Registry

Canonical Allele Identifier: PA916022258

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000003114

RCV000192227

RCV000413382

RCV000526587

RCV000984008

RCV002013686

RCV004018542

ClinVar Variation:

2980

1507898

Amino-acid Alleles

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