Allele Registry

Canonical Allele Identifier: PA2827785490

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180835

ClinVar Variation:

189882

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg918Pro	CA303197 NM_001353958.2:c.2753G>C