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}, "referenceSequence": "http://reg.genome.network/refseq/RS771356" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000651385.1:c.370C>T" ], "proteinEffect": { "hgvs": "ENSP00000499005.1:p.Arg124Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS721805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.517C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.517C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg173Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg173Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Arg124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }