{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827058404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "referenceAllele": "A",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NP_001307796.1:p.Ala62Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321242",
          "hgvs": "NM_001320867.2:c.184G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211895[alleleid]",
        "alleleId": 211895,
        "preferredName": "NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214317",
        "RCV": [
          "RCV000196829",
          "RCV000383149",
          "RCV000767331",
          "RCV002517209"
        ],
        "variationId": 214317
      }
    ]
  },
  "type": "amino-acid"
}