Allele Registry

Canonical Allele Identifier: PA2827783928

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003129159

ClinVar Variation:

2430626

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Lys1786Asn	CA349067542 NM_001353957.2:c.5358G>T CA349067544 NM_001353957.2:c.5358G>C