Allele Registry

Canonical Allele Identifier: PA2827771953

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489965

ClinVar Variation:

427073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ala1781Asp	CA349067916 NM_001353951.2:c.5342C>A