{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827100444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 406,
          "referenceAllele": "K",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308932.1:p.Lys406Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA044701",
          "hgvs": "NM_001322003.2:c.1216A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138804[alleleid]",
        "alleleId": 138804,
        "preferredName": "NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135065",
        "RCV": [
          "RCV000121840",
          "RCV000515611",
          "RCV000860105",
          "RCV001789176",
          "RCV003997355"
        ],
        "variationId": 135065
      }
    ]
  },
  "type": "amino-acid"
}