Allele Registry

Canonical Allele Identifier: PA2827784594

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180977

ClinVar Variation:

190021

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Lys276Gln	CA303576 NM_001353958.2:c.826A>C