Allele Registry

Canonical Allele Identifier: PA2826978876

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003122

RCV001248870

RCV002512692

ClinVar Variation:

2988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Asn385Ser	CA252519 NM_001318087.2:c.1154A>G