{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486903",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 244,
          "referenceAllele": "V",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001026907.2:p.Val244Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789446",
          "hgvs": "NM_001031737.3:c.730G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429842[alleleid]",
        "alleleId": 429842,
        "preferredName": "NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/434621",
        "RCV": [
          "RCV000504010",
          "RCV000540447"
        ],
        "variationId": 434621
      }
    ]
  },
  "type": "amino-acid"
}