Allele Registry

Canonical Allele Identifier: PA2827292249

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000144155

RCV003753672

ClinVar Variation:

156107

2907429

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Asn1466Lys	CA170758 NM_001330260.2:c.4398C>A CA384908571 NM_001330260.2:c.4398C>G