Allele Registry

Canonical Allele Identifier: PA2827764595

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000622760

RCV001248589

ClinVar Variation:

521545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Met774Leu	CA1943133 NM_001353950.2:c.2320A>T CA349064090 NM_001353950.2:c.2320A>C