{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827114083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 46,
          "referenceAllele": "S",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308935.1:p.Ser46Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009597",
          "hgvs": "NM_001322006.2:c.137G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624538"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24284[alleleid]",
        "alleleId": 24284,
        "preferredName": "NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9245",
        "RCV": [
          "RCV000009826",
          "RCV000056324",
          "RCV000076807",
          "RCV000115657",
          "RCV000200994",
          "RCV000524432",
          "RCV000722017",
          "RCV001353458",
          "RCV001267878",
          "RCV001797999",
          "RCV001804723",
          "RCV002476951",
          "RCV003335023",
          "RCV003390667",
          "RCV004555831"
        ],
        "variationId": 9245
      }
    ]
  },
  "type": "amino-acid"
}