Allele Registry

Canonical Allele Identifier: PA2827753726

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059419

ClinVar Variation:

68545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Tyr1462Cys	CA284964 NM_001353948.2:c.4385A>G