{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA174961",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "NP_000313.2:p.Cys213Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA174960",
          "hgvs": "NM_000322.5:c.637T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146868"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104581[alleleid]",
        "alleleId": 104581,
        "preferredName": "NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98691",
        "RCV": [
          "RCV000085002",
          "RCV000149468",
          "RCV000149469",
          "RCV001854492"
        ],
        "variationId": 98691
      }
    ]
  },
  "type": "amino-acid"
}