Allele Registry

Canonical Allele Identifier: PA242667

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000176636

RCV001852177

ClinVar Variation:

195946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Asn1779Asp	CA242664 NM_001165963.4:c.5335A>G