{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645398357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Cys1707Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620203",
          "hgvs": "NM_004380.3:c.5120G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394558212",
          "hgvs": "NM_004380.3:c.5119T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409636[alleleid]",
        "alleleId": 409636,
        "preferredName": "NM_004380.3(CREBBP):c.5120G>C (p.Cys1707Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421366",
        "RCV": [
          "RCV000486926"
        ],
        "variationId": 421366
      }
    ]
  },
  "type": "amino-acid"
}