{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828115513",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "S",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001350740.1:p.Ser127Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829235",
          "hgvs": "NM_001363811.2:c.380G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=519904[alleleid]",
        "alleleId": 519904,
        "preferredName": "NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/534129",
        "RCV": [
          "RCV000641551",
          "RCV001591432",
          "RCV003905734"
        ],
        "variationId": 534129
      }
    ]
  },
  "type": "amino-acid"
}