{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213332",
  "communityStandardTitle": [
    "NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209018[alleleid]",
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        "preferredName": "NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210331",
        "RCV": [
          "RCV000193636"
        ],
        "variationId": 210331
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25031651_25031686dup36?assembly=hg19",
        "id": "chrX:g.25031651_25031686dup36"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25031650_25031651insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT?assembly=hg19",
        "id": "chrX:g.25031650_25031651insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25013534_25013569dup36?assembly=hg38",
        "id": "chrX:g.25013534_25013569dup36"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25013533_25013534insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT?assembly=hg38",
        "id": "chrX:g.25013533_25013534insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1556056131",
        "rs": 1556056131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG",
          "end": 25013572,
          "referenceAllele": "",
          "start": 25013572
        }
      ],
      "hgvs": [
        "NC_000023.11:g.25013537_25013572dup",
        "CM000685.2:g.25013537_25013572dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG",
          "end": 25031689,
          "referenceAllele": "",
          "start": 25031689
        }
      ],
      "hgvs": [
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        "CM000685.1:g.25031654_25031689dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG",
          "end": 24941610,
          "referenceAllele": "",
          "start": 24941610
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGCAGG",
          "end": 7415,
          "referenceAllele": "",
          "start": 7415
        }
      ],
      "hgvs": [
        "NG_008281.1:g.7380_7415dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000995"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGCAGG",
          "end": 689,
          "referenceAllele": "",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "ENST00000379044.5:c.426_461dup"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000368332.4:p.Gly143_Ala154dup"
      },
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_139058.3:c.426_461dup"
          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla"
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        }
      }
    },
    {
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          "end": 672,
          "referenceAllele": "",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000368332.4:p.Gly143_Ala154dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057245998",
      "coordinates": [
        {
          "allele": "GGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGCAGG",
          "end": 672,
          "referenceAllele": "",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.2:c.426_461dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla",
        "hgvsWellDefined": "NP_620689.1:p.Gly143_Ala154dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057245998",
      "coordinates": [
        {
          "allele": "GGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGCAGG",
          "end": 689,
          "referenceAllele": "",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.3:c.426_461dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla",
        "hgvsWellDefined": "NP_620689.1:p.Gly143_Ala154dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379044.5:c.426_461dup"
          },
          "RefSeq": {
            "hgvs": "NM_139058.3:c.426_461dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}