{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916025185",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2,
          "referenceAllele": "W",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308937.1:p.Trp2Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011073",
          "hgvs": "NM_001322008.2:c.4T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366744822",
          "hgvs": "NM_001322008.2:c.4T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624595"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24288[alleleid]",
        "alleleId": 24288,
        "preferredName": "NM_000535.7(PMS2):c.219T>A (p.Cys73Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9249",
        "RCV": [
          "RCV000009830"
        ],
        "variationId": 9249
      }
    ]
  },
  "type": "amino-acid"
}