{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115712",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17753[alleleid]",
        "alleleId": 17753,
        "preferredName": "NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2714",
        "RCV": [
          "RCV000002833",
          "RCV000730517"
        ],
        "variationId": 2714
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6088241G>A?assembly=hg19",
        "id": "chr20:g.6088241G>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6107594G>A?assembly=hg38",
        "id": "chr20:g.6107594G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918292",
        "rs": 121918292
      }
    ]
  },
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      "chromosome": "20",
      "coordinates": [
        {
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        "CM000682.2:g.6107594G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 6088241,
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      ],
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        "CM000682.1:g.6088241G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 6036241,
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        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20951,
          "referenceAllele": "C",
          "start": 20950
        }
      ],
      "hgvs": [
        "NG_016213.1:g.20951C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
  ],
  "transcriptAlleles": [
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        {
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          "end": 4306,
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          "start": 4305
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    },
    {
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        {
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          "referenceAllele": "C",
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      ],
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        "ENST00000699096.1:n.1249C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS910038"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910040"
    },
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 55612,
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000217289.4:p.Gln263_Asp677delinsGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_017671.5:c.787C>T"
          }
        },
        "protein": {
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          "RefSeq": {
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        }
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      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
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      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000441063.1:p.Gln6_Asp420delinsGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115713",
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        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN015889",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_060141.3:p.Gln263_Asp677delinsGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024307703.1:p.Gln263_Asp677delinsGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115713",
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_060141.3:p.Gln263_Asp677delinsGluAspGluGlnLeuLeuLeuArgPheLysTyrTyrSerPhePheAspLeuAsnProLysTyrAspAlaValArgIleAsnGlnLeuTyrGluGlnAlaArgTrpAlaIleLeuLeuGluGluIleAspCysThrGluGluGluMetLeuIlePheAlaAlaLeuGlnTyrHisIleSerLysLeuSerLeuSerAlaGluThrGlnAspPheAlaGlyGluSerGluValAspGluIleGluAlaAlaLeuSerAsnLeuGluValThrLeuGluGlyGlyLysAlaAspSerLeuLeuGluAspIleThrAspIleProLysLeuAlaAspAsnLeuLysLeuPheArgProLysLysLeuLeuProLysAlaPheLysGlnTyrTrpPheIlePheLysAspThrSerIleAlaTyrPheLysAsnLysGluLeuGluGlnGlyGluProLeuGluLysLeuAsnLeuArgGlyCysGluValValProAspValAsnValAlaGlyArgLysPheGlyIleLysLeuLeuIleProValAlaAspGlyMetAsnGluMetTyrLeuArgCysAspHisGluAsnGlnTyrAlaGlnTrpMetAlaAlaCysMetLeuAlaSerLysGlyLysThrMetAlaAspSerSerTyrGlnProGluValLeuAsnIleLeuSerPheLeuArgMetLysAsnArgAsnSerAlaSerGlnValAlaSerSerLeuGluAsnMetAspMetAsnProGluCysPheValSerProArgCysAlaLysArgHisLysSerLysGlnLeuAlaAlaArgIleLeuGluAlaHisGlnAsnValAlaGlnMetProLeuValGluAlaLysLeuArgPheIleGlnAlaTrpGlnSerLeuProGluPheGlyLeuThrTyrTyrLeuValArgPheLysGlySerLysLysAspAspIleLeuGlyValSerTyrAsnArgLeuIleLysIleAspAlaAlaThrGlyIleProValThrThrTrpArgPheThrAsnIleLysGlnTrpAsnValAsnTrpGluThrArgGlnValValIleGluPheAspGlnAsnValPheThrAlaPheThrCysLeuSerAlaAspCysLysIleValHisGluTyrIleGlyGlyTyrIlePheLeuSerThrArgSerLysAspGlnAsnGluThrLeuAspGluAspLeuPheHisLysLeuThrGlyGlyGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.787C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.787C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Gln263Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Gln263Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}