Allele Registry

Canonical Allele Identifier: PA645403373

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413258

RCV000696398

RCV002248644

ClinVar Variation:

372566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg865Gln	CA16042360 NM_001165963.4:c.2594G>A