Allele Registry

Canonical Allele Identifier: PA2827785243

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000622760

RCV001248589

ClinVar Variation:

521545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met757Leu	CA1943133 NM_001353958.2:c.2269A>T CA349064090 NM_001353958.2:c.2269A>C