ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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)
Transcript change
XP_011509903.1:p.Thr199Arg
XM_011511601.1:c.[591del;593T>A;595A>C;59...
XM_011511601.1:c.[591del;593T>A;595A>T;59...
XM_011511601.1:c.[591del;593T>A;597A>G;60...
XM_011511601.1:c.[594del;597A>G;600dup]
XM_011511601.1:c.596C>G