{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 263,
          "referenceAllele": "K",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NP_031401.1:p.Lys263Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117346",
          "hgvs": "NM_007375.4:c.787A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172806"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20277[alleleid]",
        "alleleId": 20277,
        "preferredName": "NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5238",
        "RCV": [
          "RCV000005549"
        ],
        "variationId": 5238
      }
    ]
  },
  "type": "amino-acid"
}