Allele Registry

Canonical Allele Identifier: PA916036456

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059396

RCV000429753

ClinVar Variation:

68524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Gly950Glu	CA284913 NM_001353948.2:c.2849G>A