Allele Registry

Canonical Allele Identifier: PA2827778911

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000314247

RCV000725185

RCV004543016

ClinVar Variation:

282973

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val422Met	CA10604358 NM_001353955.2:c.1264G>A