{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645475628",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "V",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001073991.2:p.Val533Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2863711",
          "hgvs": "NM_001080522.2:c.1598T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150740"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268140[alleleid]",
        "alleleId": 268140,
        "preferredName": "NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283903",
        "RCV": [
          "RCV000299384",
          "RCV001205645"
        ],
        "variationId": 283903
      }
    ]
  },
  "type": "amino-acid"
}