{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139675960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 172,
          "referenceAllele": "V",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NP_000320.1:p.Val172Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340747191",
          "hgvs": "NM_000329.3:c.515T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146874"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=967060[alleleid]",
        "alleleId": 967060,
        "preferredName": "NM_000329.3(RPE65):c.515T>A (p.Val172Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978981",
        "RCV": [
          "RCV001257820"
        ],
        "variationId": 978981
      }
    ]
  },
  "type": "amino-acid"
}