Allele Registry

Canonical Allele Identifier: PA2827784270

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059389

ClinVar Variation:

68517

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Asp79His	CA284892 NM_001353958.2:c.235G>C