{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 218,
          "referenceAllele": "R",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "NP_068745.2:p.Arg218Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340336",
          "hgvs": "NM_021926.4:c.653G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177605"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20054[alleleid]",
        "alleleId": 20054,
        "preferredName": "NM_021926.4(ALX4):c.653G>A (p.Arg218Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5015",
        "RCV": [
          "RCV000005318"
        ],
        "variationId": 5015
      }
    ]
  },
  "type": "amino-acid"
}