Allele Registry

Canonical Allele Identifier: PA2827788252

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059390

RCV002513779

ClinVar Variation:

68518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Thr783Arg	CA284895 NM_001353960.2:c.2348C>G