Allele Registry

Canonical Allele Identifier: PA2827755028

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003754165

ClinVar Variation:

2813384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ile1782Val	CA349068080 NM_001353948.2:c.5344A>G