Allele Registry

Canonical Allele Identifier: PA2827752508

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000587683

RCV002530921

ClinVar Variation:

496119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val1168Ile	CA1942940 NM_001353948.2:c.3502G>A