Allele Registry

Canonical Allele Identifier: PA2826011934

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059377

RCV000188854

RCV000554304

RCV000857236

RCV002262611

ClinVar Variation:

68505

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Arg393Cys	CA284868 NM_001165964.3:c.1177C>T