Allele Registry

Canonical Allele Identifier: PA2826009218

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636355

ClinVar Variation:

530476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg393Pro	CA349071038 NM_001165963.4:c.1178G>C