{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830032390",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 371,
          "referenceAllele": "K",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NP_079509.5:p.Lys371Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8578204",
          "hgvs": "NM_025233.7:c.1112A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178817"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114645[alleleid]",
        "alleleId": 2114645,
        "preferredName": "NM_025233.7(COASY):c.1112A>G (p.Lys371Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2049002",
        "RCV": [
          "RCV002909479",
          "RCV003317626"
        ],
        "variationId": 2049002
      }
    ]
  },
  "type": "amino-acid"
}