{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA331351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 561,
          "referenceAllele": "E",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Glu561Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018988",
          "hgvs": "NM_000251.3:c.1681G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96220[alleleid]",
        "alleleId": 96220,
        "preferredName": "NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90745",
        "RCV": [
          "RCV000410128",
          "RCV000484663",
          "RCV000524354",
          "RCV000568086",
          "RCV001198848",
          "RCV003997152"
        ],
        "variationId": 90745
      }
    ]
  },
  "type": "amino-acid"
}