Allele Registry

Canonical Allele Identifier: PA916037014

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489965

ClinVar Variation:

427073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala978Asp	CA349067916 NM_001353961.2:c.2933C>A