Allele Registry

Canonical Allele Identifier: PA107716

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059396

RCV000429753

ClinVar Variation:

68524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Gly950Glu	CA284913 NM_001165963.4:c.2849G>A