{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114784",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "T",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021498",
      "geneNCBI_id": 55054,
      "geneSymbol": "ATG16L1",
      "hgvs": [
        "NP_110430.5:p.Thr300Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114782",
          "hgvs": "NM_030803.7:c.898A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178962"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16169[alleleid]",
        "alleleId": 16169,
        "preferredName": "NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1130",
        "RCV": [
          "RCV000001189",
          "RCV000180346",
          "RCV003982820"
        ],
        "variationId": 1130
      }
    ]
  },
  "type": "amino-acid"
}