Allele Registry

Canonical Allele Identifier: PA2827754928

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489977

RCV002526043

ClinVar Variation:

427057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Gly1757Glu	CA349068318 NM_001353948.2:c.5270G>A