Allele Registry

Canonical Allele Identifier: PA2826014021

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003129159

ClinVar Variation:

2430626

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Lys1786Asn	CA349067542 NM_001165964.3:c.5358G>T CA349067544 NM_001165964.3:c.5358G>C