{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830432784",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "NP_954872.1:p.Gly547Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6991914",
          "hgvs": "NM_199263.3:c.1640G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185408"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2813914[alleleid]",
        "alleleId": 2813914,
        "preferredName": "NM_018676.4(THSD1):c.1799G>A (p.Gly600Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2643828",
        "RCV": [
          "RCV003393327"
        ],
        "variationId": 2643828
      }
    ]
  },
  "type": "amino-acid"
}