{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580446193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 575,
          "referenceAllele": "M",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_068831.1:p.Met575Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399492943",
          "hgvs": "NM_021991.4:c.1725G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399492945",
          "hgvs": "NM_021991.4:c.1725G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399492947",
          "hgvs": "NM_021991.4:c.1725G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177661"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1831437[alleleid]",
        "alleleId": 1831437,
        "preferredName": "NM_002230.4(JUP):c.1725G>T (p.Met575Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1778853",
        "RCV": [
          "RCV003097180",
          "RCV002399117"
        ],
        "variationId": 1778853
      }
    ]
  },
  "type": "amino-acid"
}