{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915982393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 68,
          "referenceAllele": "A",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001243825.1:p.Ala68Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829373",
          "hgvs": "NM_001256896.2:c.203C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=632180[alleleid]",
        "alleleId": 632180,
        "preferredName": "NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/664626",
        "RCV": [
          "RCV000822754",
          "RCV001731945",
          "RCV001766748",
          "RCV003169039"
        ],
        "variationId": 664626
      }
    ]
  },
  "type": "amino-acid"
}