{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825457250",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1371,
          "referenceAllele": "F",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_001073315.1:p.Phe1371Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA271408",
          "hgvs": "NM_001079846.1:c.4112T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169233[alleleid]",
        "alleleId": 169233,
        "preferredName": "NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158370",
        "RCV": [
          "RCV000145750"
        ],
        "variationId": 158370
      }
    ]
  },
  "type": "amino-acid"
}