Allele Registry

Canonical Allele Identifier: PA2827769531

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001195991

RCV002280166

ClinVar Variation:

930374

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ile227Thr	CA349074069 NM_001353951.2:c.680T>C