{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827679474",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 320,
          "referenceAllele": "R",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_001339704.1:p.Arg320His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8565329",
          "hgvs": "NM_001352775.2:c.959G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634400"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402449[alleleid]",
        "alleleId": 402449,
        "preferredName": "NM_002230.4(JUP):c.959G>A (p.Arg320His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409982",
        "RCV": [
          "RCV000457167",
          "RCV001256954",
          "RCV001764429",
          "RCV002379466"
        ],
        "variationId": 409982
      }
    ]
  },
  "type": "amino-acid"
}