{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741979588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1805,
          "referenceAllele": "E",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NP_066015.2:p.Glu1805Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8948593",
          "hgvs": "NM_020964.3:c.5413G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3134774[alleleid]",
        "alleleId": 3134774,
        "preferredName": "NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2980010",
        "RCV": [
          "RCV003837184"
        ],
        "variationId": 2980010
      }
    ]
  },
  "type": "amino-acid"
}