Allele Registry

Canonical Allele Identifier: PA2827772066

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000481884

RCV001043102

RCV002350068

ClinVar Variation:

421612

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Arg1850Gln	CA16617277 NM_001353951.2:c.5549G>A