{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573276797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "NP_066288.2:p.Gly225Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA378932898",
          "hgvs": "NM_021008.4:c.674G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679527[alleleid]",
        "alleleId": 1679527,
        "preferredName": "NM_021008.4(DEAF1):c.674G>A (p.Gly225Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687234",
        "RCV": [
          "RCV002250916"
        ],
        "variationId": 1687234
      }
    ]
  },
  "type": "amino-acid"
}