Allele Registry

Canonical Allele Identifier: PA2825297721

Gene: SMPDL3B HGNC NCBI

ClinVar RCV:

RCV004076687

ClinVar Variation:

2208266

HGVS (amino-acid)	Matching Registered Transcripts
NP_001009568.1:p.Arg323Trp	CA718750 NM_001009568.2:c.967C>T