Allele Registry

Canonical Allele Identifier: PA2826129507

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000482488

RCV001330496

RCV001856835

ClinVar Variation:

419568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Ile240Val	CA16619557 NM_001177984.2:c.718A>G