{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270028",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 65,
          "referenceAllele": "D",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NP_000545.1:p.Asp65His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270027",
          "hgvs": "NM_000554.6:c.193G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275544529",
          "hgvs": "NM_000554.6:c.193_195delinsCAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147089"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152803[alleleid]",
        "alleleId": 152803,
        "preferredName": "NM_000554.6(CRX):c.193G>C (p.Asp65His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143085",
        "RCV": [
          "RCV000132604",
          "RCV003888547"
        ],
        "variationId": 143085
      }
    ]
  },
  "type": "amino-acid"
}