{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916025349",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 45,
          "referenceAllele": "L",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308942.1:p.Leu45Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA012634",
          "hgvs": "NM_001322013.1:c.135G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366743793",
          "hgvs": "NM_001322013.1:c.135G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50157[alleleid]",
        "alleleId": 50157,
        "preferredName": "NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41718",
        "RCV": [
          "RCV000034634",
          "RCV000165656",
          "RCV000231924",
          "RCV000412437",
          "RCV001290448"
        ],
        "variationId": 41718
      }
    ]
  },
  "type": "amino-acid"
}