Allele Registry

Canonical Allele Identifier: PA2826129481

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239757

ClinVar Variation:

253278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Val216Asp	CA10586287 NM_001177984.2:c.647T>A