{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374986424",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637712[alleleid]",
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        "preferredName": "NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/651893",
        "RCV": [
          "RCV000807334",
          "RCV002453812"
        ],
        "variationId": 651893
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130592097G>A?assembly=hg19",
        "id": "chr9:g.130592097G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127829818G>A?assembly=hg38",
        "id": "chr9:g.127829818G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588585997",
        "rs": 1588585997
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "hgvs": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "hgvs": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "hgvs": [
        "NG_009551.1:g.29951C>T",
        "LRG_589:g.29951C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.-318C>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.229C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.229C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Gln77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Gln77Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 510,
          "referenceAllele": "C",
          "start": 509
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
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      "hgvs": [
        "ENST00000373203.8:c.229C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.-318C>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043883",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.229C>T",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000109.1:p.Gln77_Gln625delinsLeuGluLeuThrLeuGlnAlaSerLysGlnAsnGlyThrTrpProArgGluValLeuLeuValLeuSerValAsnSerSerValPheLeuHisLeuGlnAlaLeuGlyIleProLeuHisLeuAlaTyrAsnSerSerLeuValThrPheGlnGluProProGlyValAsnThrThrGluLeuProSerPheProLysThrGlnIleLeuGluTrpAlaAlaGluArgGlyProIleThrSerAlaAlaGluLeuAsnAspProGlnSerIleLeuLeuArgLeuGlyGlnAlaGlnGlySerLeuSerPheCysMetLeuGluAlaSerGlnAspMetGlyArgThrLeuGluTrpArgProArgThrProAlaLeuValArgGlyCysHisLeuGluGlyValAlaGlyHisLysGluAlaHisIleLeuArgValLeuProGlyHisSerAlaGlyProArgThrValThrValLysValGluLeuSerCysAlaProGlyAspLeuAspAlaValLeuIleLeuGlnGlyProProTyrValSerTrpLeuIleAspAlaAsnHisAsnMetGlnIleTrpThrThrGlyGluTyrSerPheLysIlePheProGluLysAsnIleArgGlyPheLysLeuProAspThrProGlnGlyLeuLeuGlyGluAlaArgMetLeuAsnAlaSerIleValAlaSerPheValGluLeuProLeuAlaSerIleValSerLeuHisAlaSerSerCysGlyGlyArgLeuGlnThrSerProAlaProIleGlnThrThrProProLysAspThrCysSerProGluLeuLeuMetSerLeuIleGlnThrLysCysAlaAspAspAlaMetThrLeuValLeuLysLysGluLeuValAlaHisLeuLysCysThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976546",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.229C>T",
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      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Gln77Ter",
        "hgvsWellDefined": "NP_001108225.1:p.Gln77_Ala658delinsLeuGluLeuThrLeuGlnAlaSerLysGlnAsnGlyThrTrpProArgGluValLeuLeuValLeuSerValAsnSerSerValPheLeuHisLeuGlnAlaLeuGlyIleProLeuHisLeuAlaTyrAsnSerSerLeuValThrPheGlnGluProProGlyValAsnThrThrGluLeuProSerPheProLysThrGlnIleLeuGluTrpAlaAlaGluArgGlyProIleThrSerAlaAlaGluLeuAsnAspProGlnSerIleLeuLeuArgLeuGlyGlnAlaGlnGlySerLeuSerPheCysMetLeuGluAlaSerGlnAspMetGlyArgThrLeuGluTrpArgProArgThrProAlaLeuValArgGlyCysHisLeuGluGlyValAlaGlyHisLysGluAlaHisIleLeuArgValLeuProGlyHisSerAlaGlyProArgThrValThrValLysValGluLeuSerCysAlaProGlyAspLeuAspAlaValLeuIleLeuGlnGlyProProTyrValSerTrpLeuIleAspAlaAsnHisAsnMetGlnIleTrpThrThrGlyGluTyrSerPheLysIlePheProGluLysAsnIleArgGlyPheLysLeuProAspThrProGlnGlyLeuLeuGlyGluAlaArgMetLeuAsnAlaSerIleValAlaSerPheValGluLeuProLeuAlaSerIleValSerLeuHisAlaSerSerCysGlyGlyArgLeuGlnThrSerProAlaProIleGlnThrThrProProLysAspThrCysSerProGluLeuLeuMetSerLeuIleGlnThrLysCysAlaAspAspAlaMetThrLeuValLeuLysLysGluLeuValAlaHisLeuLysCysThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-318C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "-",
          "endIntronOffset": 2579,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "-",
          "startIntronOffset": 2580
        }
      ],
      "hgvs": [
        "XR_001746952.2:n.83-2580G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS595197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976546",
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        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Gln77Ter",
        "hgvsWellDefined": "NP_001108225.1:p.Gln77_Ala658delinsLeuGluLeuThrLeuGlnAlaSerLysGlnAsnGlyThrTrpProArgGluValLeuLeuValLeuSerValAsnSerSerValPheLeuHisLeuGlnAlaLeuGlyIleProLeuHisLeuAlaTyrAsnSerSerLeuValThrPheGlnGluProProGlyValAsnThrThrGluLeuProSerPheProLysThrGlnIleLeuGluTrpAlaAlaGluArgGlyProIleThrSerAlaAlaGluLeuAsnAspProGlnSerIleLeuLeuArgLeuGlyGlnAlaGlnGlySerLeuSerPheCysMetLeuGluAlaSerGlnAspMetGlyArgThrLeuGluTrpArgProArgThrProAlaLeuValArgGlyCysHisLeuGluGlyValAlaGlyHisLysGluAlaHisIleLeuArgValLeuProGlyHisSerAlaGlyProArgThrValThrValLysValGluLeuSerCysAlaProGlyAspLeuAspAlaValLeuIleLeuGlnGlyProProTyrValSerTrpLeuIleAspAlaAsnHisAsnMetGlnIleTrpThrThrGlyGluTyrSerPheLysIlePheProGluLysAsnIleArgGlyPheLysLeuProAspThrProGlnGlyLeuLeuGlyGluAlaArgMetLeuAsnAlaSerIleValAlaSerPheValGluLeuProLeuAlaSerIleValSerLeuHisAlaSerSerCysGlyGlyArgLeuGlnThrSerProAlaProIleGlnThrThrProProLysAspThrCysSerProGluLeuLeuMetSerLeuIleGlnThrLysCysAlaAspAspAlaMetThrLeuValLeuLysLysGluLeuValAlaHisLeuLysCysThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Gln77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Gln77Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}