{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294327",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "Y",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Tyr43Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017905",
          "hgvs": "NM_000251.3:c.128A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96094[alleleid]",
        "alleleId": 96094,
        "preferredName": "NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90619",
        "RCV": [
          "RCV000131211",
          "RCV000212578",
          "RCV000409784",
          "RCV000764419",
          "RCV000524339",
          "RCV000656872",
          "RCV001262887",
          "RCV004537289",
          "RCV003330424"
        ],
        "variationId": 90619
      }
    ]
  },
  "type": "amino-acid"
}