{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017994",
      "geneNCBI_id": 54822,
      "geneSymbol": "TRPM7",
      "hgvs": [
        "NP_060142.3:p.Thr1482Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117098",
          "hgvs": "NM_017672.6:c.4445C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175625"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19846[alleleid]",
        "alleleId": 19846,
        "preferredName": "NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4807",
        "RCV": [
          "RCV000005076",
          "RCV001095429",
          "RCV001723538",
          "RCV003964793"
        ],
        "variationId": 4807
      }
    ]
  },
  "type": "amino-acid"
}