{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828484063",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "referenceAllele": "R",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014495",
      "geneNCBI_id": 51116,
      "geneSymbol": "MRPS2",
      "hgvs": [
        "NP_001358330.1:p.Arg110Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5323907",
          "hgvs": "NM_001371401.1:c.328C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708432"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513861[alleleid]",
        "alleleId": 513861,
        "preferredName": "NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523223",
        "RCV": [
          "RCV000626471"
        ],
        "variationId": 523223
      }
    ]
  },
  "type": "amino-acid"
}