Allele Registry

Canonical Allele Identifier: PA2827765518

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201531

ClinVar RCV:

RCV001229261

RCV001311216

ClinVar Variation:

206797

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Asp1063Asn	CA317351 NM_001353950.2:c.3187G>A