{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825649233",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 240,
          "referenceAllele": "F",
          "start": 239
        }
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      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
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          "hgvs": "NM_001127660.2:c.720C>A"
        },
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          "@id": "http://reg.genome.network/allele/CA338438888",
          "hgvs": "NM_001127660.2:c.718T>C"
        },
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          "hgvs": "NM_001127660.2:c.720C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221076[alleleid]",
        "alleleId": 221076,
        "preferredName": "NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430974[alleleid]",
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        "preferredName": "NM_014874.4(MFN2):c.720C>G (p.Phe240Leu)"
      },
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682974[alleleid]",
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        "preferredName": "NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220333",
        "RCV": [
          "RCV000205521"
        ],
        "variationId": 220333
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437424",
        "RCV": [
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        ],
        "variationId": 437424
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694947",
        "RCV": [
          "RCV000857098",
          "RCV001858529"
        ],
        "variationId": 694947
      }
    ]
  },
  "type": "amino-acid"
}