{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213237",
  "communityStandardTitle": [
    "NM_139058.3(ARX):c.617del (p.Gly206AlafsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167607[alleleid]",
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        "preferredName": "NM_139058.3(ARX):c.617del (p.Gly206fs)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157759",
        "RCV": [
          "RCV000145058"
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        "variationId": 157759
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25031495del?assembly=hg19",
        "id": "chrX:g.25031495del"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25013378del?assembly=hg38",
        "id": "chrX:g.25013378del"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783202",
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      }
    ]
  },
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      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 25013379,
          "referenceAllele": "C",
          "start": 25013378
        }
      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 25031496,
          "referenceAllele": "C",
          "start": 25031495
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      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 24941417,
          "referenceAllele": "C",
          "start": 24941416
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7571,
          "referenceAllele": "G",
          "start": 7570
        }
      ],
      "hgvs": [
        "NG_008281.1:g.7571del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000995"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
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      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752163",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
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        }
      }
    },
    {
      "coordinates": [
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      "hgvs": [
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        "hgvs": "ENSP00000368332.4:p.Gly206AlafsTer?",
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    },
    {
      "coordinates": [
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          "allele": "",
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      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.2:c.617del"
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      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Gly206AlafsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040971"
    },
    {
      "coordinates": [
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          "allele": "",
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      "hgvs": [
        "NM_139058.3:c.617del"
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      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Gly206AlafsTer?",
        "hgvsWellDefined": "NP_620689.1:p.[Gly206_Ser213delinsAlaTrpProAlaAlaArgAla;Ala216_Glu235delinsArgLeuArgValValAlaProAlaProArgThrThrArgArgSerCysTrpArgThrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Gly206AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Gly206AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}