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: SCN8A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000347255.4:p.Lys1594Glu
ENST00000355133.7:c.[4779del;4781A>G;4783...
ENST00000355133.7:c.[4779del;4781A>G;4786...
ENST00000355133.7:c.4780A>G