{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828795480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 117,
          "referenceAllele": "S",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365544.1:p.Ser117Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203454",
          "hgvs": "NM_001378615.1:c.351T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356408266",
          "hgvs": "NM_001378615.1:c.349A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356408272",
          "hgvs": "NM_001378615.1:c.351T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195612[alleleid]",
        "alleleId": 195612,
        "preferredName": "NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198451",
        "RCV": [
          "RCV000179808",
          "RCV000416151",
          "RCV001082663",
          "RCV001147861",
          "RCV001147862"
        ],
        "variationId": 198451
      }
    ]
  },
  "type": "amino-acid"
}