{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA308429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 456,
          "referenceAllele": "V",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Val456Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308426",
          "hgvs": "NM_002230.4:c.1366G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178719[alleleid]",
        "alleleId": 178719,
        "preferredName": "NM_002230.4(JUP):c.1366G>A (p.Val456Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180375",
        "RCV": [
          "RCV000157250",
          "RCV000223572",
          "RCV000333556",
          "RCV000474354",
          "RCV000769491",
          "RCV001094480",
          "RCV001719985",
          "RCV002381507"
        ],
        "variationId": 180375
      }
    ]
  },
  "type": "amino-acid"
}