{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280675",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Ala289Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280673",
          "hgvs": "NM_000243.3:c.866C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103442[alleleid]",
        "alleleId": 103442,
        "preferredName": "NM_000243.3(MEFV):c.866C>T (p.Ala289Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97550",
        "RCV": [
          "RCV000083802",
          "RCV000594000",
          "RCV002262656",
          "RCV003114248",
          "RCV003126494",
          "RCV003126493",
          "RCV002483165"
        ],
        "variationId": 97550
      }
    ]
  },
  "type": "amino-acid"
}