Allele Registry

Canonical Allele Identifier: PA2827755171

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000658882

ClinVar Variation:

546874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Trp1812Cys	CA349067580 NM_001353948.2:c.5436G>T CA349067582 NM_001353948.2:c.5436G>C