Allele Registry

Canonical Allele Identifier: PA2741866522

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003754652

ClinVar Variation:

2846763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Asp1816Glu	CA349067509 NM_001353948.2:c.5448T>G CA349067511 NM_001353948.2:c.5448T>A