{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA237209",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "I",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_068831.1:p.Ile621Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA237205",
          "hgvs": "NM_021991.4:c.1862T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177661"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189967[alleleid]",
        "alleleId": 189967,
        "preferredName": "NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191670",
        "RCV": [
          "RCV000171957",
          "RCV000765351",
          "RCV002408745"
        ],
        "variationId": 191670
      }
    ]
  },
  "type": "amino-acid"
}