{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826221759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 291,
          "referenceAllele": "V",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_001185465.2:p.Val291Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7860114",
          "hgvs": "NM_001198536.2:c.871G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=530253[alleleid]",
        "alleleId": 530253,
        "preferredName": "NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/527800",
        "RCV": [
          "RCV000632788",
          "RCV002507067",
          "RCV003126880",
          "RCV003126879"
        ],
        "variationId": 527800
      }
    ]
  },
  "type": "amino-acid"
}