Allele Registry

Canonical Allele Identifier: PA2827292312

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239671

RCV001293365

RCV001556220

RCV002226427

RCV002518547

RCV003992245

ClinVar Variation:

253195

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Glu1483Lys	CA10586233 NM_001330260.2:c.4447G>A