{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113103",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16,
          "referenceAllele": "R",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NP_000308.1:p.Arg16Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114317",
          "hgvs": "NM_000317.3:c.46C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15516[alleleid]",
        "alleleId": 15516,
        "preferredName": "NM_000317.3(PTS):c.46C>T (p.Arg16Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/477",
        "RCV": [
          "RCV000000506",
          "RCV000778305"
        ],
        "variationId": 477
      }
    ]
  },
  "type": "amino-acid"
}