{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915988637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001158145.1:p.Gly185Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829061",
          "hgvs": "NM_001164673.2:c.553G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2829063",
          "hgvs": "NM_001164673.2:c.553G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=632168[alleleid]",
        "alleleId": 632168,
        "preferredName": "NM_173660.5(DOK7):c.564G>A (p.Glu188=)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1025827[alleleid]",
        "alleleId": 1025827,
        "preferredName": "NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/654385",
        "RCV": [
          "RCV000810345",
          "RCV002252245"
        ],
        "variationId": 654385
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1036136",
        "RCV": [
          "RCV001339096",
          "RCV003145583"
        ],
        "variationId": 1036136
      }
    ]
  },
  "type": "amino-acid"
}