Allele Registry

Canonical Allele Identifier: PA2827292498

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000378250

RCV000760191

RCV002274970

RCV002287405

RCV002518109

ClinVar Variation:

290005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg1626His	CA10606625 NM_001330260.2:c.4877G>A