{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280557",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "S",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Ser749Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280555",
          "hgvs": "NM_000243.3:c.2246C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103397[alleleid]",
        "alleleId": 103397,
        "preferredName": "NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97505",
        "RCV": [
          "RCV000083757",
          "RCV000520754",
          "RCV001000179",
          "RCV002498441",
          "RCV003126460",
          "RCV003126459"
        ],
        "variationId": 97505
      }
    ]
  },
  "type": "amino-acid"
}