Allele Registry

Canonical Allele Identifier: PA916022272

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003125

RCV000410490

RCV000797253

RCV001248981

RCV004546410

ClinVar Variation:

2991

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Trp86Gly	CA115899 NM_001318088.2:c.256T>G