{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210682",
  "communityStandardTitle": [
    "NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19899[alleleid]",
        "alleleId": 19899,
        "preferredName": "NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4860",
        "RCV": [
          "RCV000005135",
          "RCV000760402"
        ],
        "variationId": 4860
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.138665408G>A?assembly=hg19",
        "id": "chr3:g.138665408G>A"
      }
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr3:g.138946566G>A?assembly=hg38",
        "id": "chr3:g.138946566G>A"
      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893737",
        "rs": 104893737
      }
    ]
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      "chromosome": "3",
      "coordinates": [
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          "start": 138946565
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
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          "allele": "A",
          "end": 138665408,
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          "start": 138665407
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
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          "end": 140148098,
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          "start": 140148097
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
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          "end": 5575,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS002413"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS004666"
    }
  ],
  "transcriptAlleles": [
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      "geneNCBI_id": 668,
      "geneSymbol": "FOXL2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497217.1:p.Gln53_Leu376delinsLysProProTyrSerTyrValAlaLeuIleAlaMetAlaIleArgGluSerAlaGluLysArgLeuThrLeuSerGlyIleTyrGlnTyrIleIleAlaLysPheProPheTyrGluLysAsnLysLysGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnGluCysPheIleLysValProArgGluGlyGlyGlyGluArgLysGlyAsnTyrTrpThrLeuAspProAlaCysGluAspMetPheGluLysGlyAsnTyrArgArgArgArgArgMetLysArgProPheArgProProProAlaHisPheGlnProGlyLysGlyLeuPheGlyAlaGlyGlyAlaAlaGlyGlyCysGlyValAlaGlyAlaGlyAlaAspGlyTyrGlyTyrLeuAlaProProLysTyrLeuGlnSerGlyPheLeuAsnAsnSerTrpProLeuProGlnProProSerProMetProTyrAlaSerCysGlnMetAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaGlyProGlySerProGlyAlaAlaAlaValValLysGlyLeuAlaGlyProAlaAlaSerTyrGlyProTyrThrArgValGlnSerMetAlaLeuProProGlyValValAsnSerTyrAsnGlyLeuGlyGlyProProAlaAlaProProProProProHisProHisProHisProHisAlaHisHisLeuHisAlaAlaAlaAlaProProProAlaProProHisHisGlyAlaAlaAlaProProProGlyGlnLeuSerProAlaSerProAlaThrAlaAlaProProAlaProAlaProThrSerAlaProGlyLeuGlnPheAlaCysAlaArgGlnProGluLeuAlaMetMetHisCysSerTyrTrpAspHisAspSerLysThrGlyAlaLeuHisSerArgLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769910",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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          }
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        "protein": {
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          "RefSeq": {
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          }
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    {
      "coordinates": [
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      "geneSymbol": "FOXL2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000333188.3:p.Gln53_Leu376delinsLysProProTyrSerTyrValAlaLeuIleAlaMetAlaIleArgGluSerAlaGluLysArgLeuThrLeuSerGlyIleTyrGlnTyrIleIleAlaLysPheProPheTyrGluLysAsnLysLysGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnGluCysPheIleLysValProArgGluGlyGlyGlyGluArgLysGlyAsnTyrTrpThrLeuAspProAlaCysGluAspMetPheGluLysGlyAsnTyrArgArgArgArgArgMetLysArgProPheArgProProProAlaHisPheGlnProGlyLysGlyLeuPheGlyAlaGlyGlyAlaAlaGlyGlyCysGlyValAlaGlyAlaGlyAlaAspGlyTyrGlyTyrLeuAlaProProLysTyrLeuGlnSerGlyPheLeuAsnAsnSerTrpProLeuProGlnProProSerProMetProTyrAlaSerCysGlnMetAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaGlyProGlySerProGlyAlaAlaAlaValValLysGlyLeuAlaGlyProAlaAlaSerTyrGlyProTyrThrArgValGlnSerMetAlaLeuProProGlyValValAsnSerTyrAsnGlyLeuGlyGlyProProAlaAlaProProProProProHisProHisProHisProHisAlaHisHisLeuHisAlaAlaAlaAlaProProProAlaProProHisHisGlyAlaAlaAlaProProProGlyGlnLeuSerProAlaSerProAlaThrAlaAlaProProAlaProAlaProThrSerAlaProGlyLeuGlnPheAlaCysAlaArgGlnProGluLeuAlaMetMetHisCysSerTyrTrpAspHisAspSerLysThrGlyAlaLeuHisSerArgLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210683",
      "coordinates": [
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          "end": 575,
          "referenceAllele": "C",
          "start": 574
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      ],
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      "geneNCBI_id": 668,
      "geneSymbol": "FOXL2",
      "hgvs": [
        "NM_023067.3:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075555.1:p.Gln53Ter",
        "hgvsWellDefined": "NP_075555.1:p.Gln53_Leu376delinsLysProProTyrSerTyrValAlaLeuIleAlaMetAlaIleArgGluSerAlaGluLysArgLeuThrLeuSerGlyIleTyrGlnTyrIleIleAlaLysPheProPheTyrGluLysAsnLysLysGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnGluCysPheIleLysValProArgGluGlyGlyGlyGluArgLysGlyAsnTyrTrpThrLeuAspProAlaCysGluAspMetPheGluLysGlyAsnTyrArgArgArgArgArgMetLysArgProPheArgProProProAlaHisPheGlnProGlyLysGlyLeuPheGlyAlaGlyGlyAlaAlaGlyGlyCysGlyValAlaGlyAlaGlyAlaAspGlyTyrGlyTyrLeuAlaProProLysTyrLeuGlnSerGlyPheLeuAsnAsnSerTrpProLeuProGlnProProSerProMetProTyrAlaSerCysGlnMetAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaGlyProGlySerProGlyAlaAlaAlaValValLysGlyLeuAlaGlyProAlaAlaSerTyrGlyProTyrThrArgValGlnSerMetAlaLeuProProGlyValValAsnSerTyrAsnGlyLeuGlyGlyProProAlaAlaProProProProProHisProHisProHisProHisAlaHisHisLeuHisAlaAlaAlaAlaProProProAlaProProHisHisGlyAlaAlaAlaProProProGlyGlnLeuSerProAlaSerProAlaThrAlaAlaProProAlaProAlaProThrSerAlaProGlyLeuGlnPheAlaCysAlaArgGlnProGluLeuAlaMetMetHisCysSerTyrTrpAspHisAspSerLysThrGlyAlaLeuHisSerArgLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210683",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_075555.1:p.Gln53_Leu376delinsLysProProTyrSerTyrValAlaLeuIleAlaMetAlaIleArgGluSerAlaGluLysArgLeuThrLeuSerGlyIleTyrGlnTyrIleIleAlaLysPheProPheTyrGluLysAsnLysLysGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnGluCysPheIleLysValProArgGluGlyGlyGlyGluArgLysGlyAsnTyrTrpThrLeuAspProAlaCysGluAspMetPheGluLysGlyAsnTyrArgArgArgArgArgMetLysArgProPheArgProProProAlaHisPheGlnProGlyLysGlyLeuPheGlyAlaGlyGlyAlaAlaGlyGlyCysGlyValAlaGlyAlaGlyAlaAspGlyTyrGlyTyrLeuAlaProProLysTyrLeuGlnSerGlyPheLeuAsnAsnSerTrpProLeuProGlnProProSerProMetProTyrAlaSerCysGlnMetAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaGlyProGlySerProGlyAlaAlaAlaValValLysGlyLeuAlaGlyProAlaAlaSerTyrGlyProTyrThrArgValGlnSerMetAlaLeuProProGlyValValAsnSerTyrAsnGlyLeuGlyGlyProProAlaAlaProProProProProHisProHisProHisProHisAlaHisHisLeuHisAlaAlaAlaAlaProProProAlaProProHisHisGlyAlaAlaAlaProProProGlyGlnLeuSerProAlaSerProAlaThrAlaAlaProProAlaProAlaProThrSerAlaProGlyLeuGlnPheAlaCysAlaArgGlnProGluLeuAlaMetMetHisCysSerTyrTrpAspHisAspSerLysThrGlyAlaLeuHisSerArgLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648323.1:c.157C>T"
          },
          "RefSeq": {
            "hgvs": "NM_023067.4:c.157C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497217.1:p.Gln53Ter"
          },
          "RefSeq": {
            "hgvs": "NP_075555.1:p.Gln53Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}