{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573085645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1083,
          "referenceAllele": "K",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Lys1083Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394570385",
          "hgvs": "NM_004380.3:c.3249A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394570386",
          "hgvs": "NM_004380.3:c.3249A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1320903[alleleid]",
        "alleleId": 1320903,
        "preferredName": "NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330223",
        "RCV": [
          "RCV001801255"
        ],
        "variationId": 1330223
      }
    ]
  },
  "type": "amino-acid"
}