{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 190,
          "referenceAllele": "D",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NP_000530.1:p.Asp190Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256684",
          "hgvs": "NM_000539.3:c.568G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28079[alleleid]",
        "alleleId": 28079,
        "preferredName": "NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13040",
        "RCV": [
          "RCV000013915",
          "RCV000504953",
          "RCV001386997"
        ],
        "variationId": 13040
      }
    ]
  },
  "type": "amino-acid"
}