{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA227583",
  "communityStandardTitle": [
    "NM_000372.5(TYR):c.707G>A (p.Trp236Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18844[alleleid]",
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        "preferredName": "NM_000372.5(TYR):c.707G>A (p.Trp236Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3805",
        "RCV": [
          "RCV000004009",
          "RCV000085966"
        ],
        "variationId": 3805
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88911828G>A?assembly=hg19",
        "id": "chr11:g.88911828G>A"
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        "@id": "http://myvariant.info/v1/variant/chr11:g.89178660G>A?assembly=hg38",
        "id": "chr11:g.89178660G>A"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61754367",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-89178660-G-A?dataset=gnomad_r4",
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
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          "end": 88551476,
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          "start": 88551475
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS001197"
    }
  ],
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      "geneNCBI_id": 7299,
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      },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251241"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
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      ],
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      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000526139.1:n.768G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS352051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA227584",
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          "referenceAllele": "G",
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      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.4:c.707G>A"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006434"
    },
    {
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      "hgvs": [
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        "hgvsWellDefined": "XP_011541272.1:p.Trp236_Gly471delinsAspTrpArgAspAlaGluLysCysAspIleCysThrAspGluTyrMetGlyGlyGlnHisProThrAsnProAsnLeuLeuSerProAlaSerPhePheSerSerTrpGlnIleValCysSerArgLeuGluGluTyrAsnSerHisGlnSerLeuCysAsnGlyThrProGluGlyProLeuArgArgAsnProGlyAsnHisAspLysSerArgThrProArgLeuProSerSerAlaAspValGluPheCysLeuSerLeuThrGlnTyrGluSerGlySerMetAspLysAlaAlaAsnPheSerPheArgAsnThrLeuGluGlyPheAlaSerProLeuThrGlyIleAlaAspAlaSerGlnSerSerMetHisAsnAlaLeuHisIleTyrMetAsnGlyThrMetSerGlnValGlnGlySerAlaAsnAspProIlePheLeuLeuHisHisAlaPheValAspSerIlePheGluGlnTrpLeuArgArgHisArgProLeuGlnGluValTyrProGluAlaAsnAlaProIleGlyHisAsnArgGluSerTyrMetValProPheIleProLeuTyrArgAsnGlyAspPhePheIleSerSerLysAspLeuGlyTyrAspTyrSerTyrLeuGlnAspSerValSerGlnTrpIleLeuPheThrThrLysAlaThrLysPheProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109898"
    },
    {
      "coordinates": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011541272.1:p.Trp236_Gly471delinsAspTrpArgAspAlaGluLysCysAspIleCysThrAspGluTyrMetGlyGlyGlnHisProThrAsnProAsnLeuLeuSerProAlaSerPhePheSerSerTrpGlnIleValCysSerArgLeuGluGluTyrAsnSerHisGlnSerLeuCysAsnGlyThrProGluGlyProLeuArgArgAsnProGlyAsnHisAspLysSerArgThrProArgLeuProSerSerAlaAspValGluPheCysLeuSerLeuThrGlnTyrGluSerGlySerMetAspLysAlaAlaAsnPheSerPheArgAsnThrLeuGluGlyPheAlaSerProLeuThrGlyIleAlaAspAlaSerGlnSerSerMetHisAsnAlaLeuHisIleTyrMetAsnGlyThrMetSerGlnValGlnGlySerAlaAsnAspProIlePheLeuLeuHisHisAlaPheValAspSerIlePheGluGlnTrpLeuArgArgHisArgProLeuGlnGluValTyrProGluAlaAsnAlaProIleGlyHisAsnArgGluSerTyrMetValProPheIleProLeuTyrArgAsnGlyAspPhePheIleSerSerLysAspLeuGlyTyrAspTyrSerTyrLeuGlnAspSerValSerGlnTrpIleLeuPheThrThrLysAlaThrLysPheProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "endIntronDirection": "-",
          "endIntronOffset": 65126,
          "referenceAllele": "C",
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS596352"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS596353"
    },
    {
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        "hgvsWellDefined": "NP_000363.1:p.Trp236_Leu529delinsAspTrpArgAspAlaGluLysCysAspIleCysThrAspGluTyrMetGlyGlyGlnHisProThrAsnProAsnLeuLeuSerProAlaSerPhePheSerSerTrpGlnIleValCysSerArgLeuGluGluTyrAsnSerHisGlnSerLeuCysAsnGlyThrProGluGlyProLeuArgArgAsnProGlyAsnHisAspLysSerArgThrProArgLeuProSerSerAlaAspValGluPheCysLeuSerLeuThrGlnTyrGluSerGlySerMetAspLysAlaAlaAsnPheSerPheArgAsnThrLeuGluGlyPheAlaSerProLeuThrGlyIleAlaAspAlaSerGlnSerSerMetHisAsnAlaLeuHisIleTyrMetAsnGlyThrMetSerGlnValGlnGlySerAlaAsnAspProIlePheLeuLeuHisHisAlaPheValAspSerIlePheGluGlnTrpLeuArgArgHisArgProLeuGlnGluValTyrProGluAlaAsnAlaProIleGlyHisAsnArgGluSerTyrMetValProPheIleProLeuTyrArgAsnGlyAspPhePheIleSerSerLysAspLeuGlyTyrAspTyrSerTyrLeuGlnAspSerAspProAspSerPheGlnAspTyrIleLysSerTyrLeuGluGlnAlaSerArgIleTrpSerTrpLeuLeuGlyAlaAlaMetValGlyAlaValLeuThrAlaLeuLeuAlaGlyLeuValSerLeuLeuCysArgHisLysArgLysGlnLeuProGluGluLysGlnProLeuLeuMetGluLysGluAspTyrHisSerLeuTyrGlnSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662416",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_000363.1:p.Trp236Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}