{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826174638",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 166,
          "referenceAllele": "R",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_001185465.2:p.Arg166His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7860228",
          "hgvs": "NM_001198536.2:c.497G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1326174[alleleid]",
        "alleleId": 1326174,
        "preferredName": "NM_000243.3(MEFV):c.1130G>A (p.Arg377His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1335201",
        "RCV": [
          "RCV001816168",
          "RCV001869640",
          "RCV003125914",
          "RCV003125913"
        ],
        "variationId": 1335201
      }
    ]
  },
  "type": "amino-acid"
}