Allele Registry

Canonical Allele Identifier: PA317528

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188972

RCV000731424

RCV001393461

ClinVar Variation:

206845

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg1575His	CA317525 NM_001165963.4:c.4724G>A