Allele Registry

Canonical Allele Identifier: PA2827781690

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059460

RCV000808399

ClinVar Variation:

68584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Arg322Ile	CA285057 NM_001353957.2:c.965G>T