{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825588673",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 640,
          "referenceAllele": "S",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NP_001116538.2:p.Ser640Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399983393",
          "hgvs": "NM_001123066.4:c.1919G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151913"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1246091[alleleid]",
        "alleleId": 1246091,
        "preferredName": "NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1256161",
        "RCV": [
          "RCV001663503",
          "RCV001825013"
        ],
        "variationId": 1256161
      }
    ]
  },
  "type": "amino-acid"
}