Allele Registry

Canonical Allele Identifier: PA108142

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059541

RCV000435635

ClinVar Variation:

68661

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Phe1808Leu	CA285237 NM_001165963.4:c.5422T>C CA349067651 NM_001165963.4:c.5424C>A CA349067654 NM_001165963.4:c.5424C>G