Allele Registry

Canonical Allele Identifier: PA2827764776

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000539521

ClinVar Variation:

461252

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Thr830Arg	CA349062549 NM_001353950.2:c.2489C>G