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  "@id": "http://reg.genome.network/allele/CA115714",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17756[alleleid]",
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        "preferredName": "NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2717",
        "RCV": [
          "RCV000002836",
          "RCV001381403",
          "RCV003894788"
        ],
        "variationId": 2717
      }
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      }
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    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr20:g.6088217G>A?assembly=hg19",
        "id": "chr20:g.6088217G>A"
      }
    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr20:g.6107570G>A?assembly=hg38",
        "id": "chr20:g.6107570G>A"
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      }
    ],
    "gnomAD_3": [
      {
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/20-6107570-G-A?dataset=gnomad_r4",
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    },
    {
      "chromosome": "20",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "20",
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      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS910038"
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      "referenceSequence": "http://reg.genome.network/refseq/RS910040"
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      "proteinEffect": {
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            "hgvs": "NM_017671.5:c.811C>T"
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        }
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
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        {
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          "referenceAllele": "C",
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
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        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
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        {
          "allele": "T",
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      "hgvs": [
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        "hgvsWellDefined": "NP_060141.3:p.Arg271_Asp677delinsPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.811C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.811C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Arg271Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Arg271Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}