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
XP_011509904.1:p.Asp249Glu
CA303474
XM_011511602.1:c.747T>G
CA349073628
XM_011511602.1:c.747T>A