{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA331318",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 516,
          "referenceAllele": "S",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Ser516Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018578",
          "hgvs": "NM_000251.3:c.1547G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96169[alleleid]",
        "alleleId": 96169,
        "preferredName": "NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90694",
        "RCV": [
          "RCV000409878",
          "RCV000485690",
          "RCV000524347",
          "RCV001012071",
          "RCV001553592",
          "RCV003997149"
        ],
        "variationId": 90694
      }
    ]
  },
  "type": "amino-acid"
}