Allele Registry

Canonical Allele Identifier: PA2827783931

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003754652

ClinVar Variation:

2846763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asp1788Glu	CA349067509 NM_001353957.2:c.5364T>G CA349067511 NM_001353957.2:c.5364T>A