{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3085483948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1770,
          "referenceAllele": "D",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NP_066015.2:p.Asp1770Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402345024",
          "hgvs": "NM_020964.3:c.5308G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4728371[alleleid]",
        "alleleId": 4728371,
        "preferredName": "NM_020964.3(EPG5):c.5308G>T (p.Asp1770Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4618601",
        "RCV": [
          "RCV006356982"
        ],
        "variationId": 4618601
      }
    ]
  },
  "type": "amino-acid"
}