Allele Registry

Canonical Allele Identifier: PA2580357748

Gene: SMPDL3B HGNC NCBI

ClinVar RCV:

RCV004076687

ClinVar Variation:

2208266

HGVS (amino-acid)	Matching Registered Transcripts
NP_055289.2:p.Arg323Trp	CA718750 NM_014474.4:c.967C>T