Allele Registry

Canonical Allele Identifier: PA2826130557

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000513422

RCV000540178

ClinVar Variation:

444293

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Thr1573Ala	CA384880355 NM_001177984.2:c.4717A>G