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"RefSeq": { "hgvs": "NM_003114.5:c.2014C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373450.3:p.Gln672Ter" }, "RefSeq": { "hgvs": "NP_003105.2:p.Gln672Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA145296", "coordinates": [ { "allele": "T", "end": 2097, "referenceAllele": "C", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_172218.3:c.2014C>T" ], "proteinEffect": { "hgvs": "NP_757367.1:p.Gln672Ter", "hgvsWellDefined": 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