{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA913190859",
  "communityStandardTitle": [
    "NM_004463.3(FGD1):c.944dup (p.Ala316CysfsTer4)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25872[alleleid]",
        "alleleId": 25872,
        "preferredName": "NM_004463.3(FGD1):c.944dup (p.Ala316fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10833",
        "RCV": [
          "RCV000011580",
          "RCV003555999"
        ],
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      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569541255",
        "rs": 1569541255
      }
    ]
  },
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    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 54470177,
          "referenceAllele": "",
          "start": 54470177
        }
      ],
      "hgvs": [
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        "CM000685.2:g.54470177dup"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
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        {
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          "referenceAllele": "",
          "start": 54496610
        }
      ],
      "hgvs": [
        "NC_000023.10:g.54496610dup",
        "CM000685.1:g.54496610dup"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 54513335,
          "referenceAllele": "",
          "start": 54513335
        }
      ],
      "hgvs": [
        "NC_000023.9:g.54513335dup"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30994,
          "referenceAllele": "",
          "start": 30994
        }
      ],
      "hgvs": [
        "NG_008054.1:g.30994dup"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000809"
    }
  ],
  "transcriptAlleles": [
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          "end": 1746,
          "referenceAllele": "",
          "start": 1746
        }
      ],
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      "geneNCBI_id": 2245,
      "geneSymbol": "FGD1",
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    },
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          "end": 1678,
          "referenceAllele": "",
          "start": 1678
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270580"
    },
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          "referenceAllele": "",
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        "hgvsWellDefined": "NP_004454.2:p.[Ala316_Val320delinsCys;Val322_Pro330del;Ser332_Asp344del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029625"
    },
    {
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          "referenceAllele": "",
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      "geneNCBI_id": 2245,
      "geneSymbol": "FGD1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666497",
      "MANE": {
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        "maneStatus": "MANE Select",
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        },
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      }
    }
  ],
  "type": "nucleotide"
}