Allele Registry

Canonical Allele Identifier: PA2827772633

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187860

ClinVar RCV:

RCV000180887

RCV000188845

ClinVar Variation:

189934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Cys257Arg	CA303350 NM_001353952.2:c.769T>C