{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365557819",
  "communityStandardTitle": [
    "NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=933149[alleleid]",
        "alleleId": 933149,
        "preferredName": "NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/941060",
        "RCV": [
          "RCV001210770"
        ],
        "variationId": 941060
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121768046C>A?assembly=hg19",
        "id": "chr6:g.121768046C>A"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121446900C>A?assembly=hg38",
        "id": "chr6:g.121446900C>A"
      }
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1773898086",
        "rs": 1773898086
      }
    ]
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        {
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          "start": 121446899
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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        }
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NG_008308.1:g.16302C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001018"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743673",
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        "maneStatus": "MANE Select",
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          }
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          }
        }
      }
    },
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769486"
    },
    {
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        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
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        "hgvsWellDefined": "ENSP00000497283.1:p.Ser18_Ile382delinsThrAlaGlyGlyLysValTrpLeuSerValLeuPheIlePheArgIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770302"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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        }
      ],
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        "hgvsWellDefined": "ENSP00000497367.1:p.Ser18_Ile382delinsThrAlaGlyGlyLysValTrpLeuSerValLeuPheIlePheArgIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000282561.3:p.Ser18_Ile382delinsThrAlaGlyGlyLysValTrpLeuSerValLeuPheIlePheArgIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668160",
      "coordinates": [
        {
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          "end": 325,
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        }
      ],
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      "geneNCBI_id": 2697,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668160",
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
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        "hgvsWellDefined": "NP_000156.1:p.Ser18_Ile382delinsThrAlaGlyGlyLysValTrpLeuSerValLeuPheIlePheArgIleLeuLeuLeuGlyThrAlaValGluSerAlaTrpGlyAspGluGlnSerAlaPheArgCysAsnThrGlnGlnProGlyCysGluAsnValCysTyrAspLysSerPheProIleSerHisValArgPheTrpValLeuGlnIleIlePheValSerValProThrLeuLeuTyrLeuAlaHisValPheTyrValMetArgLysGluGluLysLeuAsnLysLysGluGluGluLeuLysValAlaGlnThrAspGlyValAsnValAspMetHisLeuLysGlnIleGluIleLysLysPheLysTyrGlyIleGluGluHisGlyLysValLysMetArgGlyGlyLeuLeuArgThrTyrIleIleSerIleLeuPheLysSerIlePheGluValAlaPheLeuLeuIleGlnTrpTyrIleTyrGlyPheSerLeuSerAlaValTyrThrCysLysArgAspProCysProHisGlnValAspCysPheLeuSerArgProThrGluLysThrIlePheIleIlePheMetLeuValValSerLeuValSerLeuAlaLeuAsnIleIleGluLeuPheTyrValPhePheLysGlyValLysAspArgValLysGlyLysSerAspProTyrHisAlaThrSerGlyAlaLeuSerProAlaLysAspCysGlySerGlnLysTyrAlaTyrPheAsnGlyCysSerSerProThrAlaProLeuSerProMetSerProProGlyTyrLysLeuValThrGlyAspArgAsnAsnSerSerCysArgAsnTyrAsnLysGlnAlaSerGluGlnAsnTrpAlaAsnTyrSerAlaGluGlnAsnArgMetGlyGlnAlaGlySerThrIleSerAsnSerHisAlaGlnProPheAspPheProAspAspAsnGlnAsnSerLysLysLeuAlaAlaGlyHisGluLeuGlnProLeuAlaIleValAspGlnArgProSerSerArgAlaSerSerArgAlaSerSerArgProArgProAspAspLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282561.3:p.Ser18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000156.1:p.Ser18Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}