{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099765",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "R",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_005046.2:p.Arg164Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119256",
          "hgvs": "NM_005055.5:c.490C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23093[alleleid]",
        "alleleId": 23093,
        "preferredName": "NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8054",
        "RCV": [
          "RCV000008520",
          "RCV000415079",
          "RCV001343279",
          "RCV003466839"
        ],
        "variationId": 8054
      }
    ]
  },
  "type": "amino-acid"
}