{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827680467",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 442,
          "referenceAllele": "I",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_001339705.1:p.Ile442Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA237210",
          "hgvs": "NM_001352776.2:c.1324A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189968[alleleid]",
        "alleleId": 189968,
        "preferredName": "NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191671",
        "RCV": [
          "RCV000171958",
          "RCV000618640",
          "RCV001072022",
          "RCV001124751",
          "RCV001124750",
          "RCV001824660"
        ],
        "variationId": 191671
      }
    ]
  },
  "type": "amino-acid"
}