{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA246016",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "P",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_065836.2:p.Pro91Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246013",
          "hgvs": "NM_020785.2:c.271C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177111"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194876[alleleid]",
        "alleleId": 194876,
        "preferredName": "NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197715",
        "RCV": [
          "RCV000178830",
          "RCV003765100"
        ],
        "variationId": 197715
      }
    ]
  },
  "type": "amino-acid"
}