Allele Registry

Canonical Allele Identifier: PA2827784692

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187853

ClinVar RCV:

RCV000180916

RCV003588584

ClinVar Variation:

189962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Cys336Tyr	CA303417 NM_001353958.2:c.1007G>A