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Canonical Allele Identifier: Get Identifier
Gene: TFR2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000413905.1:p.[Leu175_Ile179delinsAspSerGlyHisSer;Ala181Gly;Ser184_His190delinsProProGluAlaGlyProArg;Trp192_Thr193del;Thr195Arg;Tyr197_Val198delinsAlaLeuArg;Leu200_Phe202delinsAlaAlaIle;Asp204delinsGlySer]
CA1105041731
ENST00000431692.5:c.523_524del