{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891864122",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 81,
          "referenceAllele": "E",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_000526.2:p.Glu81Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366744766",
          "hgvs": "NM_000535.7:c.241G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=523210[alleleid]",
        "alleleId": 523210,
        "preferredName": "NM_000535.7(PMS2):c.241G>C (p.Glu81Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/525852",
        "RCV": [
          "RCV000630197",
          "RCV001186068"
        ],
        "variationId": 525852
      }
    ]
  },
  "type": "amino-acid"
}