{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075603",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 564,
          "referenceAllele": "T",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365544.1:p.Thr564Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2863732",
          "hgvs": "NM_001378615.1:c.1691C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275428[alleleid]",
        "alleleId": 275428,
        "preferredName": "NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291191",
        "RCV": [
          "RCV000335348",
          "RCV001149502",
          "RCV001248140",
          "RCV001149503",
          "RCV002487294",
          "RCV002518166",
          "RCV004537623"
        ],
        "variationId": 291191
      }
    ]
  },
  "type": "amino-acid"
}