{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828788054",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1352,
          "referenceAllele": "T",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365546.1:p.Thr1352Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2864351",
          "hgvs": "NM_001378617.1:c.4055C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356429553",
          "hgvs": "NM_001378617.1:c.4054A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=294012[alleleid]",
        "alleleId": 294012,
        "preferredName": "NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/347903",
        "RCV": [
          "RCV000310019",
          "RCV000364646",
          "RCV001252766",
          "RCV004530405",
          "RCV000864851"
        ],
        "variationId": 347903
      }
    ]
  },
  "type": "amino-acid"
}