{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093511",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 694,
          "referenceAllele": "M",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Met694Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280091",
          "hgvs": "NM_000243.3:c.2080A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA658656509",
          "hgvs": "NM_000243.3:c.2080_2082delinsGTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17577[alleleid]",
        "alleleId": 17577,
        "preferredName": "NM_000243.3(MEFV):c.2080A>G (p.Met694Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445573[alleleid]",
        "alleleId": 445573,
        "preferredName": "NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2538",
        "RCV": [
          "RCV000002647",
          "RCV000216751",
          "RCV000735306",
          "RCV000735284",
          "RCV000763381",
          "RCV001028046",
          "RCV001197704",
          "RCV001535935",
          "RCV002415387",
          "RCV002262539",
          "RCV003325449",
          "RCV003335011"
        ],
        "variationId": 2538
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449657",
        "RCV": [
          "RCV000519280"
        ],
        "variationId": 449657
      }
    ]
  },
  "type": "amino-acid"
}