{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340249123",
  "communityStandardTitle": [
    "NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2133655[alleleid]",
        "alleleId": 2133655,
        "preferredName": "NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2086066",
        "RCV": [
          "RCV003005444"
        ],
        "variationId": 2086066
      }
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    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr1:g.47882132G>T?assembly=hg19",
        "id": "chr1:g.47882132G>T"
      }
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        "@id": "http://myvariant.info/v1/variant/chr1:g.47416460G>T?assembly=hg38",
        "id": "chr1:g.47416460G>T"
      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/958293767",
        "rs": 958293767
      }
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/1-47416460-G-T?dataset=gnomad_r4",
        "id": "1-47416460-G-T",
        "variant": "1:47416460 G / T"
      }
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          "end": 47416460,
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          "start": 47416459
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
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          "end": 47882132,
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          "start": 47882131
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      ],
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 47654719,
          "referenceAllele": "G",
          "start": 47654718
        }
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS002998"
    }
  ],
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      "coordinates": [
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          "referenceAllele": "G",
          "start": 175
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      ],
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      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747467",
      "MANE": {
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        "maneStatus": "MANE Select",
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        "protein": {
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        }
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580373000",
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          "referenceAllele": "G",
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      "geneSymbol": "FOXE3",
      "hgvs": [
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        "hgvsWellDefined": "NP_036318.1:p.Gly49_Leu319delinsGluAlaAlaProThrProAlaProGlyProGlyArgArgArgArgArgProLeuGlnArgGlyLysProProTyrSerTyrIleAlaLeuIleAlaMetAlaLeuAlaHisAlaProGlyArgArgLeuThrLeuAlaAlaIleTyrArgPheIleThrGluArgPheAlaPheTyrArgAspSerProArgLysTrpGlnAsnSerIleArgHisAsnLeuThrLeuAsnAspCysPheValLysValProArgGluProGlyAsnProGlyLysGlyAsnTyrTrpThrLeuAspProAlaAlaAlaAspMetPheAspAsnGlySerPheLeuArgArgArgLysArgPheLysArgAlaGluLeuProAlaHisAlaAlaAlaAlaProGlyProProLeuProPheProTyrAlaProTyrAlaProAlaProGlyProAlaLeuLeuValProProProSerAlaGlyProGlyProSerProProAlaArgLeuPheSerValAspSerLeuValAsnLeuGlnProGluLeuAlaGlyLeuGlyAlaProGluProProCysCysAlaAlaProAspAlaAlaAlaAlaAlaPheProProCysAlaAlaAlaAlaSerProProLeuTyrSerGlnValProAspArgLeuValLeuProAlaThrArgProGlyProGlyProLeuProAlaGluProLeuLeuAlaLeuAlaGlyProAlaAlaAlaLeuGlyProLeuSerProGlyGluAlaTyrLeuArgGlnProGlyPheAlaSerGlyLeuGluArgTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "endIntronDirection": "-",
          "endIntronOffset": 6558,
          "referenceAllele": "C",
          "start": 28,
          "startIntronDirection": "-",
          "startIntronOffset": 6559
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      "gene": "http://reg.genome.network/gene/GN050661",
      "geneNCBI_id": 102724077,
      "geneSymbol": "LINC01389",
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      "referenceSequence": "http://reg.genome.network/refseq/RS056199"
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    {
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      "geneNCBI_id": 2301,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_036318.1:p.Gly49_Leu319delinsGluAlaAlaProThrProAlaProGlyProGlyArgArgArgArgArgProLeuGlnArgGlyLysProProTyrSerTyrIleAlaLeuIleAlaMetAlaLeuAlaHisAlaProGlyArgArgLeuThrLeuAlaAlaIleTyrArgPheIleThrGluArgPheAlaPheTyrArgAspSerProArgLysTrpGlnAsnSerIleArgHisAsnLeuThrLeuAsnAspCysPheValLysValProArgGluProGlyAsnProGlyLysGlyAsnTyrTrpThrLeuAspProAlaAlaAlaAspMetPheAspAsnGlySerPheLeuArgArgArgLysArgPheLysArgAlaGluLeuProAlaHisAlaAlaAlaAlaProGlyProProLeuProPheProTyrAlaProTyrAlaProAlaProGlyProAlaLeuLeuValProProProSerAlaGlyProGlyProSerProProAlaArgLeuPheSerValAspSerLeuValAsnLeuGlnProGluLeuAlaGlyLeuGlyAlaProGluProProCysCysAlaAlaProAspAlaAlaAlaAlaAlaPheProProCysAlaAlaAlaAlaSerProProLeuTyrSerGlnValProAspArgLeuValLeuProAlaThrArgProGlyProGlyProLeuProAlaGluProLeuLeuAlaLeuAlaGlyProAlaAlaAlaLeuGlyProLeuSerProGlyGluAlaTyrLeuArgGlnProGlyPheAlaSerGlyLeuGluArgTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667933",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_012186.3:c.145G>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}