{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 215,
          "referenceAllele": "F",
          "start": 214
        }
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      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_005249.5:c.643T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16042954",
          "hgvs": "NM_005249.5:c.645C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389475558",
          "hgvs": "NM_005249.5:c.645C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28909[alleleid]",
        "alleleId": 28909,
        "preferredName": "NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360196[alleleid]",
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        "preferredName": "NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu)"
      },
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056170[alleleid]",
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        "preferredName": "NM_005249.5(FOXG1):c.645C>A (p.Phe215Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13870",
        "RCV": [
          "RCV000014884"
        ],
        "variationId": 13870
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373043",
        "RCV": [
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          "RCV001069733"
        ],
        "variationId": 373043
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068106",
        "RCV": [
          "RCV001379557"
        ],
        "variationId": 1068106
      }
    ]
  },
  "type": "amino-acid"
}