This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Glu2000Asp
CA349062978
NM_001202435.3:c.6000A>T
CA349062979
NM_001202435.3:c.6000A>C