{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144052",
  "communityStandardTitle": [
    "NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter)"
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  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4969699",
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        "id": "COSM4969699"
      }
    ],
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        "preferredName": "NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55971",
        "RCV": [
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          "RCV003556120"
        ],
        "variationId": 55971
      }
    ],
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    ],
    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr7:g.107420133G>A?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chr7:g.107779688G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833453",
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        "@id": "http://gnomad.broadinstitute.org/variant/7-107420133-G-A?dataset=gnomad_r2_1",
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    },
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      "chromosome": "7",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS260999"
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS272330"
    },
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      "@id": "http://reg.genome.network/allele/PA144054",
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      ],
      "gene": "http://reg.genome.network/gene/GN003018",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006174"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144054",
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
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      "geneNCBI_id": 1811,
      "geneSymbol": "SLC26A3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000102.1:p.Arg463_Phe764delinsLysAspLysTyrAspCysLeuIleTrpIleMetThrPheIlePheThrIleValLeuGlyLeuGlyLeuGlyLeuAlaAlaSerValAlaPheGlnLeuLeuThrIleValPheArgThrGlnPheProLysCysSerThrLeuAlaAsnIleGlyArgThrAsnIleTyrLysAsnLysLysAspTyrTyrAspMetTyrGluProGluGlyValLysIlePheArgCysProSerProIleTyrPheAlaAsnIleGlyPhePheArgArgLysLeuIleAspAlaValGlyPheSerProLeuArgIleLeuArgLysArgAsnLysAlaLeuArgLysIleArgLysLeuGlnLysGlnGlyLeuLeuGlnValThrProLysGlyPheIleCysThrValAspThrIleLysAspSerAspGluGluLeuAspAsnAsnGlnIleGluValLeuAspGlnProIleAsnThrThrAspLeuProPheHisIleAspTrpAsnAspAspLeuProLeuAsnIleGluValProLysIleSerLeuHisSerLeuIleLeuAspPheSerAlaValSerPheLeuAspValSerSerValArgGlyLeuLysSerIleLeuGlnGluPheIleArgIleLysValAspValTyrIleValGlyThrAspAspAspPheIleGluLysLeuAsnArgTyrGluPhePheAspGlyGluValLysSerSerIlePhePheLeuThrIleHisAspAlaValLeuHisIleLeuMetLysLysAspTyrSerThrSerLysPheAsnProSerGlnGluLysAspGlyLysIleAspPheThrIleAsnThrAsnGlyGlyLeuArgAsnArgValTyrGluValProValGluThrLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000340010.10:c.1387C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000111.3:c.1387C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345873.5:p.Arg463Ter"
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          "RefSeq": {
            "hgvs": "NP_000102.1:p.Arg463Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}