{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111048",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NP_996917.1:p.Ala224Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126749",
          "hgvs": "NM_207034.3:c.670G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185891"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31686[alleleid]",
        "alleleId": 31686,
        "preferredName": "NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16647",
        "RCV": [
          "RCV000214032",
          "RCV000907433",
          "RCV000990324",
          "RCV000018127"
        ],
        "variationId": 16647
      }
    ]
  },
  "type": "amino-acid"
}