Allele Registry

Canonical Allele Identifier: PA2827783863

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059537

ClinVar Variation:

68657

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Tyr1753Cys	CA285228 NM_001353957.2:c.5258A>G