{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645466408",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1595,
          "referenceAllele": "F",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NP_001420.2:p.Phe1595Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043163",
          "hgvs": "NM_001429.4:c.4783T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2695230912",
          "hgvs": "NM_001429.4:c.4782_4783delinsGG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360506[alleleid]",
        "alleleId": 360506,
        "preferredName": "NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372363",
        "RCV": [
          "RCV000414599",
          "RCV000624116",
          "RCV000509054",
          "RCV000433095",
          "RCV003401394"
        ],
        "variationId": 372363
      }
    ]
  },
  "type": "amino-acid"
}