{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270132",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79,
          "referenceAllele": "R",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015946",
      "geneNCBI_id": 94137,
      "geneSymbol": "RP1L1",
      "hgvs": [
        "NP_849188.4:p.Arg79Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270131",
          "hgvs": "NM_178857.5:c.235C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184149"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152883[alleleid]",
        "alleleId": 152883,
        "preferredName": "NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143165",
        "RCV": [
          "RCV000132696",
          "RCV001857476",
          "RCV003888569"
        ],
        "variationId": 143165
      }
    ]
  },
  "type": "amino-acid"
}