Allele Registry

Canonical Allele Identifier: PA2827291133

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000434079

RCV000636400

ClinVar Variation:

381058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Lys482Arg	CA6571262 NM_001330260.2:c.1445A>G