Allele Registry

Canonical Allele Identifier: PA2827763370

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413989

ClinVar Variation:

373136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Cys345Phe	CA16042370 NM_001353950.2:c.1034G>T