{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826465573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 743,
          "referenceAllele": "E",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_001245210.1:p.Glu743Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020577",
          "hgvs": "NM_001258281.1:c.2227G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50087[alleleid]",
        "alleleId": 50087,
        "preferredName": "NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41648",
        "RCV": [
          "RCV000034556",
          "RCV000121564",
          "RCV000129519",
          "RCV001080801",
          "RCV001093691",
          "RCV001030484",
          "RCV001356651",
          "RCV001787035",
          "RCV004534720"
        ],
        "variationId": 41648
      }
    ]
  },
  "type": "amino-acid"
}