Allele Registry

Canonical Allele Identifier: PA2827778854

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636355

ClinVar Variation:

530476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg393Pro	CA349071038 NM_001353955.2:c.1178G>C