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  "@id": "http://reg.genome.network/allele/CA2074979",
  "communityStandardTitle": [
    "NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)"
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        "preferredName": "NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/800308",
        "RCV": [
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          "RCV001090022",
          "RCV002508273"
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        "variationId": 800308
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    ],
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    "MyVariantInfo_hg19": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS279717"
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      "gene": "http://reg.genome.network/gene/GN029160",
      "geneNCBI_id": 22868,
      "geneSymbol": "FASTKD2",
      "hgvs": [
        "NM_001136193.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129665.1:p.Arg290Ter",
        "hgvsWellDefined": "NP_001129665.1:p.Arg290_Gln710delinsThrGlyPheArgIleLeuValAspGlnGlnValTrpLysIleGluAspValPheThrLeuGlnValValMetLysCysIleGlyLysAspAlaProIleAlaLeuLysArgLysLeuGluMetLysAlaLeuArgGluLeuAspArgPheSerValLeuAsnSerGlnHisMetPheGluValLeuAlaAlaMetAsnHisArgSerLeuIleLeuLeuAspGluCysSerLysValValLeuAspAsnIleHisGlyCysProLeuArgIleMetIleAsnIleLeuGlnSerCysLysAspLeuGlnTyrHisAsnLeuAspLeuPheLysGlyLeuAlaAspTyrValAlaAlaThrPheAspIleTrpLysPheArgLysValLeuPheIleLeuIleLeuPheGluAsnLeuGlyPheArgProValGlyLeuMetAspLeuPheMetLysArgIleValGluAspProGluSerLeuAsnMetLysAsnIleLeuSerIleLeuHisThrTyrSerSerLeuAsnHisValTyrLysCysGlnAsnLysGluGlnPheValGluValMetAlaSerAlaLeuThrGlyTyrLeuHisThrIleSerSerGluAsnLeuLeuAspAlaValTyrSerPheCysLeuMetAsnTyrPheProLeuAlaProPheAsnGlnLeuLeuGlnLysAspIleIleSerGluLeuLeuThrSerAspAspMetLysAsnAlaTyrLysLeuHisThrLeuAspThrCysLeuLysLeuAspAspThrValTyrLeuArgAspIleAlaLeuSerLeuProGlnLeuProArgGluLeuProSerSerHisThrAsnAlaLysValAlaGluValLeuSerSerLeuLeuGlyGlyGluGlyHisPheSerLysAspValHisLeuProHisAsnTyrHisIleAspPheGluIleArgMetAspThrAsnArgAsnGlnValLeuProLeuSerAspValAspThrThrSerAlaThrAspIleGlnArgValAlaValLeuCysValSerArgSerAlaTyrCysLeuGlySerSerHisProArgGlyPheLeuAlaMetLysMetArgHisLeuAsnAlaMetGlyPheHisValIleLeuValAsnAsnTrpGluMetAspLysLeuGluMetGluAspAlaValThrPheLeuLysThrLysIleTyrSerValGluAlaLeuProValAlaAlaValAsnValGlnSerThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402774.8:c.868C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001136193.2:c.868C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385990.3:p.Arg290Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001129665.1:p.Arg290Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825824263",
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029160",
      "geneNCBI_id": 22868,
      "geneSymbol": "FASTKD2",
      "hgvs": [
        "NM_001136194.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129666.1:p.Arg290Ter",
        "hgvsWellDefined": "NP_001129666.1:p.Arg290_Gln710delinsThrGlyPheArgIleLeuValAspGlnGlnValTrpLysIleGluAspValPheThrLeuGlnValValMetLysCysIleGlyLysAspAlaProIleAlaLeuLysArgLysLeuGluMetLysAlaLeuArgGluLeuAspArgPheSerValLeuAsnSerGlnHisMetPheGluValLeuAlaAlaMetAsnHisArgSerLeuIleLeuLeuAspGluCysSerLysValValLeuAspAsnIleHisGlyCysProLeuArgIleMetIleAsnIleLeuGlnSerCysLysAspLeuGlnTyrHisAsnLeuAspLeuPheLysGlyLeuAlaAspTyrValAlaAlaThrPheAspIleTrpLysPheArgLysValLeuPheIleLeuIleLeuPheGluAsnLeuGlyPheArgProValGlyLeuMetAspLeuPheMetLysArgIleValGluAspProGluSerLeuAsnMetLysAsnIleLeuSerIleLeuHisThrTyrSerSerLeuAsnHisValTyrLysCysGlnAsnLysGluGlnPheValGluValMetAlaSerAlaLeuThrGlyTyrLeuHisThrIleSerSerGluAsnLeuLeuAspAlaValTyrSerPheCysLeuMetAsnTyrPheProLeuAlaProPheAsnGlnLeuLeuGlnLysAspIleIleSerGluLeuLeuThrSerAspAspMetLysAsnAlaTyrLysLeuHisThrLeuAspThrCysLeuLysLeuAspAspThrValTyrLeuArgAspIleAlaLeuSerLeuProGlnLeuProArgGluLeuProSerSerHisThrAsnAlaLysValAlaGluValLeuSerSerLeuLeuGlyGlyGluGlyHisPheSerLysAspValHisLeuProHisAsnTyrHisIleAspPheGluIleArgMetAspThrAsnArgAsnGlnValLeuProLeuSerAspValAspThrThrSerAlaThrAspIleGlnArgValAlaValLeuCysValSerArgSerAlaTyrCysLeuGlySerSerHisProArgGlyPheLeuAlaMetLysMetArgHisLeuAsnAlaMetGlyPheHisValIleLeuValAsnAsnTrpGluMetAspLysLeuGluMetGluAspAlaValThrPheLeuLysThrLysIleTyrSerValGluAlaLeuProValAlaAlaValAsnValGlnSerThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915971295",
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029160",
      "geneNCBI_id": 22868,
      "geneSymbol": "FASTKD2",
      "hgvs": [
        "NM_014929.4:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055744.2:p.Arg290Ter",
        "hgvsWellDefined": "NP_055744.2:p.Arg290_Gln710delinsThrGlyPheArgIleLeuValAspGlnGlnValTrpLysIleGluAspValPheThrLeuGlnValValMetLysCysIleGlyLysAspAlaProIleAlaLeuLysArgLysLeuGluMetLysAlaLeuArgGluLeuAspArgPheSerValLeuAsnSerGlnHisMetPheGluValLeuAlaAlaMetAsnHisArgSerLeuIleLeuLeuAspGluCysSerLysValValLeuAspAsnIleHisGlyCysProLeuArgIleMetIleAsnIleLeuGlnSerCysLysAspLeuGlnTyrHisAsnLeuAspLeuPheLysGlyLeuAlaAspTyrValAlaAlaThrPheAspIleTrpLysPheArgLysValLeuPheIleLeuIleLeuPheGluAsnLeuGlyPheArgProValGlyLeuMetAspLeuPheMetLysArgIleValGluAspProGluSerLeuAsnMetLysAsnIleLeuSerIleLeuHisThrTyrSerSerLeuAsnHisValTyrLysCysGlnAsnLysGluGlnPheValGluValMetAlaSerAlaLeuThrGlyTyrLeuHisThrIleSerSerGluAsnLeuLeuAspAlaValTyrSerPheCysLeuMetAsnTyrPheProLeuAlaProPheAsnGlnLeuLeuGlnLysAspIleIleSerGluLeuLeuThrSerAspAspMetLysAsnAlaTyrLysLeuHisThrLeuAspThrCysLeuLysLeuAspAspThrValTyrLeuArgAspIleAlaLeuSerLeuProGlnLeuProArgGluLeuProSerSerHisThrAsnAlaLysValAlaGluValLeuSerSerLeuLeuGlyGlyGluGlyHisPheSerLysAspValHisLeuProHisAsnTyrHisIleAspPheGluIleArgMetAspThrAsnArgAsnGlnValLeuProLeuSerAspValAspThrThrSerAlaThrAspIleGlnArgValAlaValLeuCysValSerArgSerAlaTyrCysLeuGlySerSerHisProArgGlyPheLeuAlaMetLysMetArgHisLeuAsnAlaMetGlyPheHisValIleLeuValAsnAsnTrpGluMetAspLysLeuGluMetGluAspAlaValThrPheLeuLysThrLysIleTyrSerValGluAlaLeuProValAlaAlaValAsnValGlnSerThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728014"
    }
  ],
  "type": "nucleotide"
}