Allele Registry

Canonical Allele Identifier: PA2827790640

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003129159

ClinVar Variation:

2430626

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Lys1000Asn	CA349067542 NM_001353961.2:c.3000G>T CA349067544 NM_001353961.2:c.3000G>C