Allele Registry

Canonical Allele Identifier: PA2827749816

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180938

ClinVar Variation:

189982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Asp249Glu	CA303474 NM_001353948.2:c.747T>G CA349073628 NM_001353948.2:c.747T>A