{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829369197",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 638,
          "referenceAllele": "N",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Asn638His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8565090",
          "hgvs": "NM_002230.4:c.1912A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338360[alleleid]",
        "alleleId": 338360,
        "preferredName": "NM_002230.4(JUP):c.1912A>C (p.Asn638His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323165",
        "RCV": [
          "RCV000262154",
          "RCV000355139",
          "RCV001046526",
          "RCV001764292",
          "RCV002411219",
          "RCV002282119"
        ],
        "variationId": 323165
      }
    ]
  },
  "type": "amino-acid"
}