Allele Registry

Canonical Allele Identifier: PA2826259316

Gene: SCN1A HGNC NCBI

ClinVar Allele:

176938

ClinVar RCV:

RCV000153892

RCV002516100

ClinVar Variation:

167641

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Phe995Cys	CA234856 NM_001202435.3:c.2984T>G