{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127017",
  "communityStandardTitle": [
    "NM_000165.5(GJA1):c.97C>T (p.Arg33Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32034[alleleid]",
        "alleleId": 32034,
        "preferredName": "NM_000165.5(GJA1):c.97C>T (p.Arg33Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16995",
        "RCV": [
          "RCV000018518"
        ],
        "variationId": 16995
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-121768090-C-T",
        "id": "6-121768090-C-T",
        "variant": "6:121768090 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121768090C>T?assembly=hg19",
        "id": "chr6:g.121768090C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121446944C>T?assembly=hg38",
        "id": "chr6:g.121446944C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912970",
        "rs": 121912970
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-121446944-C-T?dataset=gnomad_r4",
        "id": "6-121446944-C-T",
        "variant": "6:121446944 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 121446944,
          "referenceAllele": "C",
          "start": 121446943
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      ],
      "hgvs": [
        "NC_000006.12:g.121446944C>T",
        "CM000668.2:g.121446944C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "end": 121768090,
          "referenceAllele": "C",
          "start": 121768089
        }
      ],
      "hgvs": [
        "NC_000006.11:g.121768090C>T",
        "CM000668.1:g.121768090C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 121809789,
          "referenceAllele": "C",
          "start": 121809788
        }
      ],
      "hgvs": [
        "NC_000006.10:g.121809789C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16346,
          "referenceAllele": "C",
          "start": 16345
        }
      ],
      "hgvs": [
        "NG_008308.1:g.16346C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 300,
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        }
      ],
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      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000282561.4:c.97C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000282561.3:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000165.5:c.97C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282561.3:p.Arg33Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000156.1:p.Arg33Ter"
          }
        }
      }
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    {
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        {
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          "end": 340,
          "referenceAllele": "C",
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        }
      ],
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      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000649003.1:c.97C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497283.1:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000650427.1:c.97C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497367.1:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000282561.3:c.97C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282561.3:p.Arg33Ter",
        "hgvsWellDefined": "ENSP00000282561.3:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127018",
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000156.1:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127018",
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NM_000165.5:c.97C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000156.1:p.Arg33Ter",
        "hgvsWellDefined": "NP_000156.1:p.Arg33_Ile382delinsIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282561.4:c.97C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000165.5:c.97C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282561.3:p.Arg33Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000156.1:p.Arg33Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}