{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215946",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Gly759Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020397",
          "hgvs": "NM_000251.3:c.2276G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50305[alleleid]",
        "alleleId": 50305,
        "preferredName": "NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41866",
        "RCV": [
          "RCV000034800",
          "RCV000986685",
          "RCV002444462"
        ],
        "variationId": 41866
      }
    ]
  },
  "type": "amino-acid"
}