Allele Registry

Canonical Allele Identifier: PA303157

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187795

ClinVar RCV:

RCV000180822

RCV000412755

RCV000457088

RCV000763459

RCV002281565

ClinVar Variation:

189869

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg931His	CA303154 NM_001165963.4:c.2792G>A