Allele Registry

Canonical Allele Identifier: PA2827789790

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000176636

RCV001852177

ClinVar Variation:

195946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Asn1750Asp	CA242664 NM_001353960.2:c.5248A>G