{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827120644",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 669,
          "referenceAllele": "N",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308937.1:p.Asn669Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366735985",
          "hgvs": "NM_001322008.2:c.2007C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366735987",
          "hgvs": "NM_001322008.2:c.2007C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624595"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3385552[alleleid]",
        "alleleId": 3385552,
        "preferredName": "NM_000535.7(PMS2):c.2325C>G (p.Asn775Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3232012",
        "RCV": [
          "RCV004518727"
        ],
        "variationId": 3232012
      }
    ]
  },
  "type": "amino-acid"
}