Allele Registry

Canonical Allele Identifier: PA2827783479

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188972

RCV000731424

RCV001393461

ClinVar Variation:

206845

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Arg1547His	CA317525 NM_001353957.2:c.4640G>A