Allele Registry

Canonical Allele Identifier: PA2827769645

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187860

ClinVar RCV:

RCV000180887

RCV000188845

ClinVar Variation:

189934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Cys257Arg	CA303350 NM_001353951.2:c.769T>C