Allele Registry

Canonical Allele Identifier: PA2827754885

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001070909

ClinVar Variation:

863847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro1748Arg	CA349068404 NM_001353948.2:c.5243C>G