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}, "referenceSequence": "http://reg.genome.network/refseq/RS249493" }, { "coordinates": [ { "allele": "T", "end": 4783, "referenceAllele": "C", "start": 4782 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000374011.6:c.3814C>T" ], "proteinEffect": { "hgvs": "ENSP00000363123.2:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270020" }, { "@id": "http://reg.genome.network/allele/PA645442950", "coordinates": [ { "allele": "T", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001029882.3:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_001025053.1:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS008930" }, { "coordinates": [ { "allele": "T", "end": 4770, "referenceAllele": "C", "start": 4769 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.2:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057399" }, { "coordinates": [ { "allele": "T", "end": 4875, "referenceAllele": "C", "start": 4874 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.2:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057400" }, { "coordinates": [ { "allele": "T", "end": 4895, "referenceAllele": "C", "start": 4894 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.2:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532516" }, { "coordinates": [ { "allele": "T", "end": 5005, "referenceAllele": "C", "start": 5004 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.3:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Arg1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532519" }, { "coordinates": [ { "allele": "T", "end": 4999, "referenceAllele": "C", "start": 4998 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.2:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Arg1272Ter", "hgvsWellDefined": 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"XP_011539559.1:p.Arg1272_Leu1603delinsGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554366" }, { "coordinates": [ { "allele": "T", "end": 4962, "referenceAllele": "C", "start": 4961 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_024446461.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_024302229.1:p.Arg1272Ter", "hgvsWellDefined": "XP_024302229.1:p.Arg1272_Leu1603delinsGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580123" }, { "coordinates": [ { "allele": "T", "end": 4881, "referenceAllele": "C", "start": 4880 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.2:n.4881C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614392" }, { "@id": "http://reg.genome.network/allele/PA2573072539", "coordinates": [ { "allele": "T", "end": 4715, "referenceAllele": "C", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001371928.1:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_001358857.1:p.Arg1272Ter", "hgvsWellDefined": "NP_001358857.1:p.Arg1272_Leu1603delinsGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3814C>T" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Arg1272Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Arg1272Ter" } } } } ], "type": "nucleotide" }