{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130364",
  "communityStandardTitle": [
    "NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48165[alleleid]",
        "alleleId": 48165,
        "preferredName": "NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39566",
        "RCV": [
          "RCV000032766",
          "RCV003447101"
        ],
        "variationId": 39566
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.12139779T>G?assembly=hg19",
        "id": "chr10:g.12139779T>G"
      }
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr10:g.12097780T>G?assembly=hg38",
        "id": "chr10:g.12097780T>G"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231237",
        "rs": 606231237
      }
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    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/10-12139779-T-G?dataset=gnomad_r2_1",
        "id": "10-12139779-T-G",
        "variant": "10:12139779 T / G"
      }
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-12097780-T-G?dataset=gnomad_r4",
        "id": "10-12097780-T-G",
        "variant": "10:12097780 T / G"
      }
    ]
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      "chromosome": "10",
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          "start": 12097779
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
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          "end": 12139779,
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
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          "end": 12179785,
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          "start": 12179784
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      "referenceGenome": "NCBI36",
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    },
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      "coordinates": [
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          "start": 33863
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS005490"
    }
  ],
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      "coordinates": [
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          "end": 1535,
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        }
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      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742437",
      "MANE": {
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        "maneStatus": "MANE Select",
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          }
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          }
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      "geneNCBI_id": 55526,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251168"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "T",
          "start": 108
        }
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      "gene": "http://reg.genome.network/gene/GN023537",
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      "hgvs": [
        "ENST00000448829.1:c.109T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS299904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "T",
          "start": 594
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      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
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        "ENST00000465617.1:n.595T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130365",
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
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      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067550",
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
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      "gene": "http://reg.genome.network/gene/GN023537",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_061176.4:p.Tyr485_Ala919delinsAlaLysLeuAsnAspHisLeuAsnAsnMetAlaHisTyrArgProProAlaLeuAsnLeuGlnAlaHisTrpGlnGlyLeuAlaGlnProGluAlaGlnIleThrThrTrpSerThrGlyValProLeuAspLeuLeuArgPheValGlyMetLysSerValGluValProArgGluLeuGlnMetHisSerHisLeuLeuLysThrHisValGlnSerArgMetGluLysMetMetAspGlyIleLysLeuAspTrpAlaThrAlaGluAlaLeuAlaLeuGlySerLeuLeuAlaGlnGlyPheAsnValArgLeuSerGlyGlnAspValGlyArgGlyThrPheSerGlnArgHisAlaIleValValCysGlnGluThrAspAspThrTyrIleProLeuAsnHisMetAspProAsnGlnLysGlyPheLeuGluValSerAsnSerProLeuSerGluGluAlaValLeuGlyPheGluTyrGlyMetSerIleGluSerProLysLeuLeuProLeuTrpGluAlaGlnPheGlyAspPhePheAsnGlyAlaGlnIleIlePheAspThrPheIleSerGlyGlyGluAlaLysTrpLeuLeuGlnSerGlyIleValIleLeuLeuProHisGlyTyrAspGlyAlaGlyProAspHisSerSerCysArgIleGluArgPheLeuGlnMetCysAspSerAlaGluGluGlyValAspGlyAspThrValAsnMetPheValValHisProThrThrProAlaGlnTyrPheHisLeuLeuArgArgGlnMetValArgAsnPheArgLysProLeuIleValAlaSerProLysMetLeuLeuArgLeuProAlaAlaValSerThrLeuGlnGluMetAlaProGlyThrThrPheAsnProValIleGlyAspSerSerValAspProLysLysValLysThrLeuValPheCysSerGlyLysHisPheTyrSerLeuValLysGlnArgGluSerLeuGlyAlaLysLysHisAspPheAlaIleIleArgValGluGluLeuCysProPheProLeuAspSerLeuGlnGlnGluMetSerLysTyrLysHisValLysAspHisIleTrpSerGlnGluGluProGlnAsnMetGlyProTrpSerPheValSerProArgPheGluLysGlnLeuAlaCysLysLeuArgLeuValGlyArgProProLeuProValProAlaValGlyIleGlyThrValHisLeuHisGlnHisGluAspIleLeuAlaLysThrPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669733",
      "MANE": {
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        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_061176.4:p.Tyr485Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}