{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828068037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 971,
          "referenceAllele": "I",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NP_001349772.1:p.Ile971Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147264",
          "hgvs": "NM_001362843.2:c.2911A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3044590987",
          "hgvs": "NM_001362843.2:c.2904_2911delinsAGAGGATG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99639[alleleid]",
        "alleleId": 99639,
        "preferredName": "NM_001429.4(EP300):c.2989A>G (p.Ile997Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93736",
        "RCV": [
          "RCV000079673",
          "RCV001664278",
          "RCV001610362",
          "RCV001664279"
        ],
        "variationId": 93736
      }
    ]
  },
  "type": "amino-acid"
}