Allele Registry

Canonical Allele Identifier: PA2826013574

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188972

RCV000731424

RCV001393461

ClinVar Variation:

206845

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Arg1547His	CA317525 NM_001165964.3:c.4640G>A