{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499272216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 452,
          "referenceAllele": "I",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007104",
      "geneNCBI_id": 4285,
      "geneSymbol": "MIPEP",
      "hgvs": [
        "NP_005923.3:p.Ile452Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6913007",
          "hgvs": "NM_005932.4:c.1354A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673995"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1021152[alleleid]",
        "alleleId": 1021152,
        "preferredName": "NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1033047",
        "RCV": [
          "RCV001335343",
          "RCV003542342"
        ],
        "variationId": 1033047
      }
    ]
  },
  "type": "amino-acid"
}