Allele Registry

Canonical Allele Identifier: PA2827291416

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239754

RCV001218534

ClinVar Variation:

253283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr668Ile	CA6571404 NM_001330260.2:c.2003C>T