{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093459",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 680,
          "referenceAllele": "M",
          "start": 679
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      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000243.3:c.2040G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA280267",
          "hgvs": "NM_000243.3:c.2040G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10577519",
          "hgvs": "NM_000243.3:c.2040G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17589[alleleid]",
        "alleleId": 17589,
        "preferredName": "NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45169[alleleid]",
        "alleleId": 45169,
        "preferredName": "NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231936[alleleid]",
        "alleleId": 231936,
        "preferredName": "NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2550",
        "RCV": [
          "RCV000002659",
          "RCV000216518",
          "RCV001269325",
          "RCV001283820",
          "RCV002262549"
        ],
        "variationId": 2550
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36507",
        "RCV": [
          "RCV000030179",
          "RCV000222364",
          "RCV000515335",
          "RCV001197705",
          "RCV002262586",
          "RCV002251932",
          "RCV002254152",
          "RCV002415433",
          "RCV002477026"
        ],
        "variationId": 36507
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234365",
        "RCV": [
          "RCV000220209",
          "RCV003605614"
        ],
        "variationId": 234365
      }
    ]
  },
  "type": "amino-acid"
}