{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827680761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 697,
          "referenceAllele": "M",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_001339705.1:p.Met697Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137178",
          "hgvs": "NM_001352776.2:c.2089A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399490809",
          "hgvs": "NM_001352776.2:c.2089A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34156[alleleid]",
        "alleleId": 34156,
        "preferredName": "NM_002230.4(JUP):c.2089A>T (p.Met697Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21304",
        "RCV": [
          "RCV000020467",
          "RCV000039075",
          "RCV000251926",
          "RCV000351947",
          "RCV001513998",
          "RCV001811192",
          "RCV003125833"
        ],
        "variationId": 21304
      }
    ]
  },
  "type": "amino-acid"
}