ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SCN1A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000407030.2:p.Thr199Arg
ENST00000423058.6:c.[591del;593T>A;595A>C...
ENST00000423058.6:c.[591del;593T>A;595A>T...
ENST00000423058.6:c.[591del;593T>A;597A>G...
ENST00000423058.6:c.[594del;597A>G;600dup...
ENST00000423058.6:c.596C>G