{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094329",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "referenceAllele": "T",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Thr910Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA171789",
          "hgvs": "NM_004380.3:c.2728A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38997[alleleid]",
        "alleleId": 38997,
        "preferredName": "NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30042",
        "RCV": [
          "RCV000022942",
          "RCV000145728",
          "RCV000421582",
          "RCV001087789",
          "RCV001252206",
          "RCV002224958",
          "RCV002311524",
          "RCV003974853"
        ],
        "variationId": 30042
      }
    ]
  },
  "type": "amino-acid"
}