Allele Registry

Canonical Allele Identifier: PA2827783220

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059414

RCV001048734

ClinVar Variation:

68540

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Tyr1394Cys	CA284949 NM_001353957.2:c.4181A>G