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}, "referenceSequence": "http://reg.genome.network/refseq/RS058339" }, { "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513869.1:c.3652C>T" ], "proteinEffect": { "hgvs": "XP_011512171.1:p.Arg1218Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081101" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513870.1:c.3652C>T" ], "proteinEffect": { "hgvs": "XP_011512172.1:p.Arg1218Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081102" }, { "coordinates": [ { "allele": "T", "end": 3646, "referenceAllele": "C", "start": 3645 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513871.1:c.3505C>T" ], "proteinEffect": { "hgvs": "XP_011512173.1:p.Arg1169Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081103" }, { "coordinates": [ { "allele": "T", "end": 3646, "referenceAllele": "C", "start": 3645 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_017008482.1:c.3505C>T" ], "proteinEffect": { "hgvs": "XP_016863971.1:p.Arg1169Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562982" }, { "coordinates": [ { "allele": "T", "end": 3897, "referenceAllele": "C", "start": 3896 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XR_001741296.1:n.3897C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591311" }, { "@id": "http://reg.genome.network/allele/PA2573075324", "coordinates": [ { "allele": "T", "end": 3846, "referenceAllele": "C", "start": 3845 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378615.1:c.3652C>T" ], "proteinEffect": { "hgvs": "NP_001365544.1:p.Arg1218Ter", "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.3652C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.3652C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg1218Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg1218Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828787782", "coordinates": [ { "allele": "T", "end": 3646, "referenceAllele": "C", "start": 3645 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.3505C>T" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Arg1169Ter", "hgvsWellDefined": "NP_001365546.1:p.Arg1169_Arg1571delinsAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }