{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580318159",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2121,
          "referenceAllele": "K",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NP_005236.2:p.Lys2121Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3166266",
          "hgvs": "NM_005245.4:c.6361A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170892"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2092268[alleleid]",
        "alleleId": 2092268,
        "preferredName": "NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2043407",
        "RCV": [
          "RCV002912971",
          "RCV004548387"
        ],
        "variationId": 2043407
      }
    ]
  },
  "type": "amino-acid"
}