Allele Registry

Canonical Allele Identifier: PA658809131

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000622760

RCV001248589

ClinVar Variation:

521545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Met785Leu	CA1943133 NM_001165963.4:c.2353A>T CA349064090 NM_001165963.4:c.2353A>C