{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825458408",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2292,
          "referenceAllele": "L",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_001073315.1:p.Leu2292Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620193",
          "hgvs": "NM_001079846.1:c.6874C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409625[alleleid]",
        "alleleId": 409625,
        "preferredName": "NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423615",
        "RCV": [
          "RCV000480206"
        ],
        "variationId": 423615
      }
    ]
  },
  "type": "amino-acid"
}