Allele Registry

Canonical Allele Identifier: PA2827780541

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000518137

RCV000690853

RCV002289705

ClinVar Variation:

448255

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg1584His	CA1942737 NM_001353955.2:c.4751G>A