{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280243",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 339,
          "referenceAllele": "S",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Ser339Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280241",
          "hgvs": "NM_000243.3:c.1016C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45159[alleleid]",
        "alleleId": 45159,
        "preferredName": "NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36497",
        "RCV": [
          "RCV000030169",
          "RCV000366739",
          "RCV003466877",
          "RCV001001441",
          "RCV002262577"
        ],
        "variationId": 36497
      }
    ]
  },
  "type": "amino-acid"
}