{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828436593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 31,
          "referenceAllele": "R",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "NP_001357453.1:p.Arg31Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252746",
          "hgvs": "NM_001370524.1:c.91C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708254"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18430[alleleid]",
        "alleleId": 18430,
        "preferredName": "NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3391",
        "RCV": [
          "RCV000003558",
          "RCV001093068",
          "RCV001291483",
          "RCV001353204",
          "RCV001375180"
        ],
        "variationId": 3391
      }
    ]
  },
  "type": "amino-acid"
}