Allele Registry

Canonical Allele Identifier: PA2828169385

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

18022

ClinVar RCV:

RCV000003117

ClinVar Variation:

2983

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Ser394Arg	CA252511 NM_001365135.1:c.1182C>A CA379374440 NM_001365135.1:c.1180A>C CA379374454 NM_001365135.1:c.1182C>G