{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891864053",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_000526.2:p.Gly29Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013092",
          "hgvs": "NM_000535.7:c.86G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50160[alleleid]",
        "alleleId": 50160,
        "preferredName": "NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41721",
        "RCV": [
          "RCV000034637",
          "RCV000115707",
          "RCV000121855",
          "RCV000123093",
          "RCV000786854",
          "RCV001082141",
          "RCV003492334",
          "RCV003891470"
        ],
        "variationId": 41721
      }
    ]
  },
  "type": "amino-acid"
}