Allele Registry

Canonical Allele Identifier: PA2827783712

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636342

ClinVar Variation:

530466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asp1674Asn	CA1942691 NM_001353957.2:c.5020G>A