{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280397",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 469,
          "referenceAllele": "V",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Val469Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280395",
          "hgvs": "NM_000243.3:c.1405G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394464758",
          "hgvs": "NM_000243.3:c.1405G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103334[alleleid]",
        "alleleId": 103334,
        "preferredName": "NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97442",
        "RCV": [
          "RCV000083693",
          "RCV001553681",
          "RCV003126426",
          "RCV003126425"
        ],
        "variationId": 97442
      }
    ]
  },
  "type": "amino-acid"
}