Allele Registry

Canonical Allele Identifier: PA303352

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180887

RCV000188845

ClinVar Variation:

189934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Cys257Arg	CA303350 NM_001165963.4:c.769T>C