Allele Registry

Canonical Allele Identifier: PA2827761534

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000176636

RCV001852177

ClinVar Variation:

195946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Asn1768Asp	CA242664 NM_001353949.2:c.5302A>G