Allele Registry

Canonical Allele Identifier: PA2827777753

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636342

ClinVar Variation:

530466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Asp1690Asn	CA1942691 NM_001353954.2:c.5068G>A