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"http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Glu302Ter", "hgvsWellDefined": 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"G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.904G>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Glu302Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.904G>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Glu302Ter", "hgvsWellDefined": 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"ENST00000299427.12:c.904G>T" }, "RefSeq": { "hgvs": "NM_000391.4:c.904G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Glu302Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Glu302Ter" } } } } ], "type": "nucleotide" }