{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA249479",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "referenceAllele": "D",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NP_001114.2:p.Asp218Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249478",
          "hgvs": "NM_001123.4:c.653A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38558[alleleid]",
        "alleleId": 38558,
        "preferredName": "NM_006721.4(ADK):c.704A>C (p.Asp235Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29604",
        "RCV": [
          "RCV000022444"
        ],
        "variationId": 29604
      }
    ]
  },
  "type": "amino-acid"
}