{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829368229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 138,
          "referenceAllele": "E",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Glu138Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8565503",
          "hgvs": "NM_002230.4:c.412G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621566[alleleid]",
        "alleleId": 621566,
        "preferredName": "NM_002230.4(JUP):c.412G>A (p.Glu138Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632865",
        "RCV": [
          "RCV000780359",
          "RCV001049504",
          "RCV001256955",
          "RCV001592960",
          "RCV002332568"
        ],
        "variationId": 632865
      }
    ]
  },
  "type": "amino-acid"
}