{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA251741",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 197,
          "referenceAllele": "P",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001158145.1:p.Pro197Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251739",
          "hgvs": "NM_001164673.2:c.590C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16318[alleleid]",
        "alleleId": 16318,
        "preferredName": "NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1279",
        "RCV": [
          "RCV000001341",
          "RCV001781161",
          "RCV001851535"
        ],
        "variationId": 1279
      }
    ]
  },
  "type": "amino-acid"
}