Allele Registry

Canonical Allele Identifier: PA2826011663

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187863

ClinVar RCV:

RCV000180867

ClinVar Variation:

189915

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ser243Tyr	CA303295 NM_001165964.3:c.728C>A