{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825187754",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 181,
          "referenceAllele": "*",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NP_000476.1:p.Ter181Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA258149",
          "hgvs": "NM_000485.3:c.542G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147020"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33341[alleleid]",
        "alleleId": 33341,
        "preferredName": "NM_000485.3(APRT):c.542G>C (p.Ter181Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18302",
        "RCV": [
          "RCV000019964"
        ],
        "variationId": 18302
      }
    ]
  },
  "type": "amino-acid"
}