Allele Registry

Canonical Allele Identifier: PA2827753161

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188940

RCV001222481

ClinVar Variation:

206818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala1339Asp	CA317429 NM_001353948.2:c.4016C>A