Allele Registry

Canonical Allele Identifier: PA2827774874

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489977

RCV002526043

ClinVar Variation:

427057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Gly1746Glu	CA349068318 NM_001353952.2:c.5237G>A