Allele Registry

Canonical Allele Identifier: PA2827783728

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001090359

RCV001862677

ClinVar Variation:

870750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr1681Asn	CA349069066 NM_001353957.2:c.5042C>A