Allele Registry

Canonical Allele Identifier: PA2827786779

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489977

RCV002526043

ClinVar Variation:

427057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Gly1729Glu	CA349068318 NM_001353958.2:c.5186G>A