Allele Registry

Canonical Allele Identifier: PA2827779584

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187792

ClinVar RCV:

RCV000180820

RCV000256008

ClinVar Variation:

189867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Cys947Tyr	CA303149 NM_001353955.2:c.2840G>A