Allele Registry

Canonical Allele Identifier: PA2826260582

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489965

ClinVar Variation:

427073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ala1792Asp	CA349067916 NM_001202435.3:c.5375C>A