{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA158167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 910,
          "referenceAllele": "T",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Thr910Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158166",
          "hgvs": "NM_004380.3:c.2728A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394551014",
          "hgvs": "NM_004380.3:c.2729C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137663[alleleid]",
        "alleleId": 137663,
        "preferredName": "NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133924",
        "RCV": [
          "RCV000120591",
          "RCV002055327",
          "RCV003935143",
          "RCV001557193",
          "RCV002316339"
        ],
        "variationId": 133924
      }
    ]
  },
  "type": "amino-acid"
}