Allele Registry

Canonical Allele Identifier: PA2826012607

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059479

RCV000636356

ClinVar Variation:

68602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Val916Ala	CA285093 NM_001165964.3:c.2747T>C