Allele Registry

Canonical Allele Identifier: PA916036729

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188940

RCV001222481

ClinVar Variation:

206818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala525Asp	CA317429 NM_001353961.2:c.1574C>A