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}, "referenceSequence": "http://reg.genome.network/refseq/RS081104" }, { "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "C", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513873.1:c.1558C>T" ], "proteinEffect": { "hgvs": "XP_011512175.1:p.Arg520Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543070" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_017008482.1:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_016863971.1:p.Arg471Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS562982" }, { "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "C", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XR_001741296.1:n.1758C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591311" }, { "coordinates": [ { "allele": "T", "end": 1752, "referenceAllele": "C", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378615.1:c.1558C>T" ], "proteinEffect": { "hgvs": "NP_001365544.1:p.Arg520Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS721805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.1558C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.1558C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg520Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg520Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Arg471Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }