Allele Registry

Canonical Allele Identifier: PA2827790721

Gene: SCN1A HGNC NCBI

ClinVar Allele:

421295

ClinVar RCV:

RCV000493585

RCV002527097

ClinVar Variation:

430087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ile1053Thr	CA349065249 NM_001353961.2:c.3158T>C