{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825457293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1408,
          "referenceAllele": "R",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_001073315.1:p.Arg1408His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602826",
          "hgvs": "NM_001079846.1:c.4223G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363266[alleleid]",
        "alleleId": 363266,
        "preferredName": "NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376387",
        "RCV": [
          "RCV000420453",
          "RCV000424559",
          "RCV000425211",
          "RCV000425657",
          "RCV000432858",
          "RCV000433580",
          "RCV000435262",
          "RCV000437565",
          "RCV000441923",
          "RCV000441892",
          "RCV000443540"
        ],
        "variationId": 376387
      }
    ]
  },
  "type": "amino-acid"
}