{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827114218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 80,
          "referenceAllele": "F",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308935.1:p.Phe80Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA048060",
          "hgvs": "NM_001322006.2:c.240C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366744767",
          "hgvs": "NM_001322006.2:c.240C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366744771",
          "hgvs": "NM_001322006.2:c.238T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624538"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212610[alleleid]",
        "alleleId": 212610,
        "preferredName": "NM_000535.7(PMS2):c.240C>G (p.Phe80Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=483958[alleleid]",
        "alleleId": 483958,
        "preferredName": "NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216456",
        "RCV": [
          "RCV000199747",
          "RCV001015438",
          "RCV003468908",
          "RCV003997028"
        ],
        "variationId": 216456
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/492275",
        "RCV": [
          "RCV000582270",
          "RCV000663328",
          "RCV000690673",
          "RCV004002367"
        ],
        "variationId": 492275
      }
    ]
  },
  "type": "amino-acid"
}