Allele Registry

Canonical Allele Identifier: PA2826896328

Gene: SMPDL3B HGNC NCBI

ClinVar RCV:

RCV004076687

ClinVar Variation:

2208266

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291508.1:p.Arg117Trp	CA718750 NM_001304579.2:c.349C>T