Allele Registry

Canonical Allele Identifier: PA2827780846

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489977

RCV002526043

ClinVar Variation:

427057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Gly1745Glu	CA349068318 NM_001353955.2:c.5234G>A