{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 440,
          "referenceAllele": "Q",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Gln440Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280245",
          "hgvs": "NM_000243.3:c.1318C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45161[alleleid]",
        "alleleId": 45161,
        "preferredName": "NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36499",
        "RCV": [
          "RCV000586627",
          "RCV000989483",
          "RCV001526854",
          "RCV001281041",
          "RCV002262579",
          "RCV002251931",
          "RCV003224108"
        ],
        "variationId": 36499
      }
    ]
  },
  "type": "amino-acid"
}