Allele Registry

Canonical Allele Identifier: PA2826259498

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000587683

RCV002530921

ClinVar Variation:

496119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Val1168Ile	CA1942940 NM_001202435.3:c.3502G>A