Allele Registry

Canonical Allele Identifier: PA2827750554

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187833

ClinVar RCV:

RCV000180872

ClinVar Variation:

189920

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val422Ala	CA303306 NM_001353948.2:c.1265T>C