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Canonical Allele Identifier: Get Identifier
Gene: TFR2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000420525.1:p.Tyr250Ter
ENST00000462107.1:c.[749_755del;757C>A]

ENST00000462107.1:c.750del

ENST00000462107.1:c.750C>A

ENST00000462107.1:c.750C>G