{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658672384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 452,
          "referenceAllele": "E",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Glu452Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA46660139",
          "hgvs": "NM_000251.3:c.1354G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=451313[alleleid]",
        "alleleId": 451313,
        "preferredName": "NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455484",
        "RCV": [
          "RCV000567928",
          "RCV000556329",
          "RCV002476086",
          "RCV003478112",
          "RCV004003731"
        ],
        "variationId": 455484
      }
    ]
  },
  "type": "amino-acid"
}