{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658818055",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1789,
          "referenceAllele": "N",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Asn1789Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394557043",
          "hgvs": "NM_004380.3:c.5366A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512202[alleleid]",
        "alleleId": 512202,
        "preferredName": "NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521543",
        "RCV": [
          "RCV000623665",
          "RCV001027717",
          "RCV003231542"
        ],
        "variationId": 521543
      }
    ]
  },
  "type": "amino-acid"
}