Allele Registry

Canonical Allele Identifier: PA2827779645

Gene: SCN1A HGNC NCBI

ClinVar Allele:

176938

ClinVar RCV:

RCV000153892

RCV002516100

ClinVar Variation:

167641

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Phe983Cys	CA234856 NM_001353955.2:c.2948T>G