{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828735917",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 82,
          "referenceAllele": "E",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001364959.1:p.Glu82Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789699",
          "hgvs": "NM_001378030.1:c.246A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394104467",
          "hgvs": "NM_001378030.1:c.246A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737770"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=644963[alleleid]",
        "alleleId": 644963,
        "preferredName": "NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/656693",
        "RCV": [
          "RCV000813173"
        ],
        "variationId": 656693
      }
    ]
  },
  "type": "amino-acid"
}