Allele Registry

Canonical Allele Identifier: PA2829676521

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489965

ClinVar Variation:

427073

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala1781Asp	CA349067916 NM_006920.6:c.5342C>A