{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588468",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259914[alleleid]",
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        "preferredName": "NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265371",
        "RCV": [
          "RCV000255761",
          "RCV000545627",
          "RCV001003750",
          "RCV000791375",
          "RCV002436090"
        ],
        "variationId": 265371
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130592049G>A?assembly=hg19",
        "id": "chr9:g.130592049G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127829770G>A?assembly=hg38",
        "id": "chr9:g.127829770G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039506",
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    ],
    "gnomAD_4": [
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        "variant": "9:127829770 G / A"
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      "referenceGenome": "GRCh38",
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    {
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    },
    {
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      "referenceGenome": "NCBI36",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_001114753.3:c.277C>T"
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        }
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS306511"
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    {
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043913",
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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        "hgvsWellDefined": "NP_000109.1:p.Arg93_Gln625delinsGluValLeuLeuValLeuSerValAsnSerSerValPheLeuHisLeuGlnAlaLeuGlyIleProLeuHisLeuAlaTyrAsnSerSerLeuValThrPheGlnGluProProGlyValAsnThrThrGluLeuProSerPheProLysThrGlnIleLeuGluTrpAlaAlaGluArgGlyProIleThrSerAlaAlaGluLeuAsnAspProGlnSerIleLeuLeuArgLeuGlyGlnAlaGlnGlySerLeuSerPheCysMetLeuGluAlaSerGlnAspMetGlyArgThrLeuGluTrpArgProArgThrProAlaLeuValArgGlyCysHisLeuGluGlyValAlaGlyHisLysGluAlaHisIleLeuArgValLeuProGlyHisSerAlaGlyProArgThrValThrValLysValGluLeuSerCysAlaProGlyAspLeuAspAlaValLeuIleLeuGlnGlyProProTyrValSerTrpLeuIleAspAlaAsnHisAsnMetGlnIleTrpThrThrGlyGluTyrSerPheLysIlePheProGluLysAsnIleArgGlyPheLysLeuProAspThrProGlnGlyLeuLeuGlyGluAlaArgMetLeuAsnAlaSerIleValAlaSerPheValGluLeuProLeuAlaSerIleValSerLeuHisAlaSerSerCysGlyGlyArgLeuGlnThrSerProAlaProIleGlnThrThrProProLysAspThrCysSerProGluLeuLeuMetSerLeuIleGlnThrLysCysAlaAspAspAlaMetThrLeuValLeuLysLysGluLeuValAlaHisLeuLysCysThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400240",
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "-",
          "endIntronOffset": 2627,
          "referenceAllele": "G",
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          "startIntronDirection": "-",
          "startIntronOffset": 2628
        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS595197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400240",
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      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Arg93Ter",
        "hgvsWellDefined": "NP_001108225.1:p.Arg93_Ala658delinsGluValLeuLeuValLeuSerValAsnSerSerValPheLeuHisLeuGlnAlaLeuGlyIleProLeuHisLeuAlaTyrAsnSerSerLeuValThrPheGlnGluProProGlyValAsnThrThrGluLeuProSerPheProLysThrGlnIleLeuGluTrpAlaAlaGluArgGlyProIleThrSerAlaAlaGluLeuAsnAspProGlnSerIleLeuLeuArgLeuGlyGlnAlaGlnGlySerLeuSerPheCysMetLeuGluAlaSerGlnAspMetGlyArgThrLeuGluTrpArgProArgThrProAlaLeuValArgGlyCysHisLeuGluGlyValAlaGlyHisLysGluAlaHisIleLeuArgValLeuProGlyHisSerAlaGlyProArgThrValThrValLysValGluLeuSerCysAlaProGlyAspLeuAspAlaValLeuIleLeuGlnGlyProProTyrValSerTrpLeuIleAspAlaAsnHisAsnMetGlnIleTrpThrThrGlyGluTyrSerPheLysIlePheProGluLysAsnIleArgGlyPheLysLeuProAspThrProGlnGlyLeuLeuGlyGluAlaArgMetLeuAsnAlaSerIleValAlaSerPheValGluLeuProLeuAlaSerIleValSerLeuHisAlaSerSerCysGlyGlyArgLeuGlnThrSerProAlaProIleGlnThrThrProProLysAspThrCysSerProGluLeuLeuMetSerLeuIleGlnThrLysCysAlaAspAspAlaMetThrLeuValLeuLysLysGluLeuValAlaHisLeuLysCysThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.277C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.277C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Arg93Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Arg93Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.-270C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-270C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}