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
ENSP00000407030.2:p.Asp998Glu
CA317343
ENST00000423058.6:c.2994C>A
CA349060479
ENST00000423058.6:c.2994C>G