Allele Registry

Canonical Allele Identifier: PA2827783513

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518137

RCV000690853

RCV002289705

ClinVar Variation:

448255

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Arg1568His	CA1942737 NM_001353957.2:c.4703G>A