Allele Registry

Canonical Allele Identifier: PA2827761594

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489965

ClinVar Variation:

427073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Ala1781Asp	CA349067916 NM_001353949.2:c.5342C>A