Allele Registry

Canonical Allele Identifier: PA2827780146

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180895

RCV002515210

ClinVar Variation:

189942

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ser1350Arg	CA303364 NM_001353955.2:c.4050C>G CA349050513 NM_001353955.2:c.4050C>A CA349050537 NM_001353955.2:c.4048A>C