Allele Registry

Canonical Allele Identifier: PA2826012731

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000462390

RCV000585632

ClinVar Variation:

194617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.His992Gln	CA240694 NM_001165964.3:c.2976C>A CA349060180 NM_001165964.3:c.2976C>G