{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254055",
  "communityStandardTitle": [
    "NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)"
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        "preferredName": "NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7006",
        "RCV": [
          "RCV000007421",
          "RCV000414681"
        ],
        "variationId": 7006
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.129455552C>T?assembly=hg19",
        "id": "chr9:g.129455552C>T"
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        "id": "chr9:g.126693273C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909490",
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        "id": "9-129455552-C-T",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "9",
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    },
    {
      "chromosome": "9",
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      "referenceGenome": "NCBI36",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758949"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS263450"
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      "referenceSequence": "http://reg.genome.network/refseq/RS269707"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352031"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS375823"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS015694"
    },
    {
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          "allele": "T",
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      },
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    },
    {
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        "hgvsWellDefined": "NP_002307.2:p.Arg232_Ser395delinsAlaPheLysAlaSerPheGluValSerSerLysProCysArgLysValArgGluThrLeuAlaAlaGluThrGlyLeuSerValArgValValGlnValTrpPheGlnAsnGlnArgAlaLysMetLysLysLeuAlaArgArgHisGlnGlnGlnGlnGluGlnGlnAsnSerGlnArgLeuGlyGlnGluValLeuSerSerArgMetGluGlyMetMetAlaSerTyrThrProLeuAlaProProGlnGlnGlnIleValAlaMetGluGlnSerProTyrGlySerSerAspProPheGlnGlnGlyLeuThrProProGlnMetProGlyAsnAspSerIlePheHisAspIleAspSerAspThrSerLeuThrSerLeuSerAspCysPheLeuGlySerSerAspValGlySerLeuGlnAlaArgValGlyAsnProIleAspArgLeuTyrSerMetGlnSerSerTyrPheAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027637"
    },
    {
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          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001167617.1:p.Arg232_Ser406delinsAlaPheLysAlaSerPheGluValSerSerLysProCysArgLysValArgGluThrLeuAlaAlaGluThrGlyLeuSerValArgValValGlnValTrpPheGlnAsnGlnArgAlaLysMetLysLysLeuAlaArgArgHisGlnGlnGlnGlnGluGlnGlnAsnSerGlnArgLeuGlyGlnGlyGluProGlyProGlyGlnGlyLeuGlyGlnGluValLeuSerSerArgMetGluGlyMetMetAlaSerTyrThrProLeuAlaProProGlnGlnGlnIleValAlaMetGluGlnSerProTyrGlySerSerAspProPheGlnGlnGlyLeuThrProProGlnMetProGlyAsnAspSerIlePheHisAspIleAspSerAspThrSerLeuThrSerLeuSerAspCysPheLeuGlySerSerAspValGlySerLeuGlnAlaArgValGlyAsnProIleAspArgLeuTyrSerMetGlnSerSerTyrPheAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678868"
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    {
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        "protein": {
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          "RefSeq": {
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        }
      }
    },
    {
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      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_002307.2:p.Arg232_Ser395delinsAlaPheLysAlaSerPheGluValSerSerLysProCysArgLysValArgGluThrLeuAlaAlaGluThrGlyLeuSerValArgValValGlnValTrpPheGlnAsnGlnArgAlaLysMetLysLysLeuAlaArgArgHisGlnGlnGlnGlnGluGlnGlnAsnSerGlnArgLeuGlyGlnGluValLeuSerSerArgMetGluGlyMetMetAlaSerTyrThrProLeuAlaProProGlnGlnGlnIleValAlaMetGluGlnSerProTyrGlySerSerAspProPheGlnGlnGlyLeuThrProProGlnMetProGlyAsnAspSerIlePheHisAspIleAspSerAspThrSerLeuThrSerLeuSerAspCysPheLeuGlySerSerAspValGlySerLeuGlnAlaArgValGlyAsnProIleAspArgLeuTyrSerMetGlnSerSerTyrPheAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695511"
    }
  ],
  "type": "nucleotide"
}