{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139674595",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "F",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Phe451Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394467428",
          "hgvs": "NM_000243.3:c.1352T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=957741[alleleid]",
        "alleleId": 957741,
        "preferredName": "NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/964707",
        "RCV": [
          "RCV001238979",
          "RCV001532318",
          "RCV003127715",
          "RCV003127714"
        ],
        "variationId": 964707
      }
    ]
  },
  "type": "amino-acid"
}