Allele Registry

Canonical Allele Identifier: PA2827782692

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201531

ClinVar RCV:

RCV001229261

RCV001311216

ClinVar Variation:

206797

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asp1046Asn	CA317351 NM_001353957.2:c.3136G>A