Allele Registry

Canonical Allele Identifier: PA2829675057

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000622760

RCV001248589

ClinVar Variation:

521545

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Met774Leu	CA1943133 NM_006920.6:c.2320A>T CA349064090 NM_006920.6:c.2320A>C