Allele Registry

Canonical Allele Identifier: PA916036378

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000622760

RCV001248589

ClinVar Variation:

521545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met785Leu	CA1943133 NM_001353948.2:c.2353A>T CA349064090 NM_001353948.2:c.2353A>C