{
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  "@id": "http://reg.genome.network/allele/CA408192086",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1035899[alleleid]",
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        "preferredName": "NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1047996",
        "RCV": [
          "RCV001352793"
        ],
        "variationId": 1047996
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6096502G>C?assembly=hg19",
        "id": "chr20:g.6096502G>C"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6115855G>C?assembly=hg38",
        "id": "chr20:g.6115855G>C"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1983080839",
        "rs": 1983080839
      }
    ]
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      "chromosome": "20",
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        "CM000682.2:g.6115855G>C"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "20",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS910037"
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    {
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          "start": 340
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      "referenceSequence": "http://reg.genome.network/refseq/RS910040"
    },
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          "start": 615
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_017671.5:c.341C>G"
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        },
        "protein": {
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            "hgvs": "ENSP00000217289.4:p.Ser114Ter"
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          "RefSeq": {
            "hgvs": "NP_060141.3:p.Ser114Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
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        {
          "allele": "G",
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      "referenceSequence": "http://reg.genome.network/refseq/RS272225"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499283490",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN015889",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024307703.1:p.Ser114_Asp677delinsAlaValValPheLysAlaValSerAspIleCysLysIleLeuAsnIleArgArgSerGluGluLeuSerLeuLeuLysProSerGlyAspTyrPheLysLysLysLysLysLysAspLysAsnAsnLysGluProIleIleGluAspIleLeuAsnLeuGluSerSerProThrAlaSerGlySerSerValSerProGlyLeuTyrSerLysThrMetThrProIleTyrAspProIleAsnGlyThrProAlaSerSerThrMetThrTrpPheSerAspSerProLeuThrGluGlnAsnCysSerIleLeuAlaPheSerGlnProProGlnSerProGluAlaLeuAlaAspMetTyrGlnProArgSerLeuValAspLysAlaLysLeuAsnAlaGlyTrpLeuAspSerSerArgSerLeuMetGluGlnGlyIleGlnGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499283490",
      "coordinates": [
        {
          "allele": "G",
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          "start": 615
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      ],
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      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Ser114Ter",
        "hgvsWellDefined": "NP_060141.3:p.Ser114_Asp677delinsAlaValValPheLysAlaValSerAspIleCysLysIleLeuAsnIleArgArgSerGluGluLeuSerLeuLeuLysProSerGlyAspTyrPheLysLysLysLysLysLysAspLysAsnAsnLysGluProIleIleGluAspIleLeuAsnLeuGluSerSerProThrAlaSerGlySerSerValSerProGlyLeuTyrSerLysThrMetThrProIleTyrAspProIleAsnGlyThrProAlaSerSerThrMetThrTrpPheSerAspSerProLeuThrGluGlnAsnCysSerIleLeuAlaPheSerGlnProProGlnSerProGluAlaLeuAlaAspMetTyrGlnProArgSerLeuValAspLysAlaLysLeuAsnAlaGlyTrpLeuAspSerSerArgSerLeuMetGluGlnGlyIleGlnGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.341C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.341C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Ser114Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Ser114Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}