Allele Registry

Canonical Allele Identifier: PA2827787053

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000520906

RCV000636264

RCV002358408

ClinVar Variation:

449673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Tyr1898Cys	CA1942643 NM_001353958.2:c.5693A>G