{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828796487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1000,
          "referenceAllele": "E",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365544.1:p.Glu1000Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA210338",
          "hgvs": "NM_001378615.1:c.2999A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573137613",
          "hgvs": "NM_001378615.1:c.2999_3000delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214176[alleleid]",
        "alleleId": 214176,
        "preferredName": "NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1428753[alleleid]",
        "alleleId": 1428753,
        "preferredName": "NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217604",
        "RCV": [
          "RCV000201775",
          "RCV001853233"
        ],
        "variationId": 217604
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453471",
        "RCV": [
          "RCV002037916"
        ],
        "variationId": 1453471
      }
    ]
  },
  "type": "amino-acid"
}