{
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  "@id": "http://reg.genome.network/allele/CA8175612",
  "communityStandardTitle": [
    "NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620563[alleleid]",
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        "preferredName": "NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631760",
        "RCV": [
          "RCV000778479"
        ],
        "variationId": 631760
      }
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      {
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        "variant": "16:75513721 C / T"
      }
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        "@id": "http://myvariant.info/v1/variant/chr16:g.75513721C>T?assembly=hg19",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/753928736",
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      }
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    },
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    },
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    },
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      },
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    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS770779"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259532"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274641"
    },
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061106"
    },
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      ],
      "proteinEffect": {
        "hgvs": "XP_011521387.1:p.Trp2Ter",
        "hgvsWellDefined": "XP_011521387.1:p.Trp2_Asn395delinsLeuProArgValSerSerThrAlaValThrAlaLeuLeuLeuAlaGlnThrPheLeuLeuLeuPheLeuValSerArgProGlyProSerSerProAlaGlyGlyGluAlaArgValHisValLeuValLeuSerSerTrpArgSerGlySerSerPheValGlyGlnLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196315",
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NM_021615.5:c.6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_067628.1:p.Trp2Ter",
        "hgvsWellDefined": "NP_067628.1:p.Trp2_Asn395delinsLeuProArgValSerSerThrAlaValThrAlaLeuLeuLeuAlaGlnThrPheLeuLeuLeuPheLeuValSerArgProGlyProSerSerProAlaGlyGlyGluAlaArgValHisValLeuValLeuSerSerTrpArgSerGlySerSerPheValGlyGlnLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332272.9:c.6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021615.5:c.6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328983.4:p.Trp2Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067628.1:p.Trp2Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_005255955.5:c.6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256012.1:p.Trp2Ter",
        "hgvsWellDefined": "XP_005256012.1:p.Trp2_Asn395delinsLeuProArgValSerSerThrAlaValThrAlaLeuLeuLeuAlaGlnThrPheLeuLeuLeuPheLeuValSerArgProGlyProSerSerProAlaGlyGlyGluAlaArgValHisValLeuValLeuSerSerTrpArgSerGlySerSerPheValGlyGlnLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_011523085.3:c.6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521387.1:p.Trp2Ter",
        "hgvsWellDefined": "XP_011521387.1:p.Trp2_Asn395delinsLeuProArgValSerSerThrAlaValThrAlaLeuLeuLeuAlaGlnThrPheLeuLeuLeuPheLeuValSerArgProGlyProSerSerProAlaGlyGlyGluAlaArgValHisValLeuValLeuSerSerTrpArgSerGlySerSerPheValGlyGlnLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "endIntronDirection": "+",
          "endIntronOffset": 1994,
          "referenceAllele": "G",
          "start": 733,
          "startIntronDirection": "+",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163480.1:n.733+1994G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 1994,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163481.1:n.577+1994G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705572"
    }
  ],
  "type": "nucleotide"
}