Allele Registry

Canonical Allele Identifier: PA2827789272

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489011

RCV001257670

ClinVar Variation:

426175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Val1452Ile	CA349049242 NM_001353960.2:c.4354G>A