{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827124181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 344,
          "referenceAllele": "H",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308938.1:p.His344Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009671",
          "hgvs": "NM_001322009.2:c.1032C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366741986",
          "hgvs": "NM_001322009.2:c.1032C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624667"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50140[alleleid]",
        "alleleId": 50140,
        "preferredName": "NM_000535.7(PMS2):c.1437C>G (p.His479Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41701",
        "RCV": [
          "RCV000034615",
          "RCV000076809",
          "RCV000121844",
          "RCV000162366",
          "RCV000625386",
          "RCV001081746",
          "RCV001356193",
          "RCV003149610",
          "RCV003153324"
        ],
        "variationId": 41701
      }
    ]
  },
  "type": "amino-acid"
}