Allele Registry

Canonical Allele Identifier: PA303293

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180865

RCV001850417

ClinVar Variation:

189913

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp382Glu	CA303290 NM_006920.6:c.1146C>A CA349071118 NM_006920.6:c.1146C>G