Allele Registry

Canonical Allele Identifier: PA2827773446

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413258

RCV000696398

RCV002248644

ClinVar Variation:

372566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Arg854Gln	CA16042360 NM_001353952.2:c.2561G>A