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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: TFR2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000413905.1:p.Tyr250Ter
ENST00000431692.5:c.[749_755del;757C>A]
ENST00000431692.5:c.750del
ENST00000431692.5:c.750C>A
ENST00000431692.5:c.750C>G