Allele Registry

Canonical Allele Identifier: PA916036742

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000439959

ClinVar Variation:

383166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Cys540Ser	CA16603838 NM_001353961.2:c.1619G>C CA349050657 NM_001353961.2:c.1618T>A