Allele Registry

Canonical Allele Identifier: PA108594

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059419

ClinVar Variation:

68545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Tyr1462Cys	CA284964 NM_001165963.4:c.4385A>G