{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828704053",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 280,
          "referenceAllele": "K",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NP_001364197.1:p.Lys280Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225492",
          "hgvs": "NM_001377268.1:c.839A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29299[alleleid]",
        "alleleId": 29299,
        "preferredName": "NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14260",
        "RCV": [
          "RCV000015329",
          "RCV000084552"
        ],
        "variationId": 14260
      }
    ]
  },
  "type": "amino-acid"
}