{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826463682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "P",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_001245210.1:p.Pro283Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016975",
          "hgvs": "NM_001258281.1:c.847C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95987[alleleid]",
        "alleleId": 95987,
        "preferredName": "NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90512",
        "RCV": [
          "RCV000128932",
          "RCV000148635",
          "RCV000588936",
          "RCV000764423",
          "RCV000986664",
          "RCV001085377",
          "RCV001844030",
          "RCV002279934"
        ],
        "variationId": 90512
      }
    ]
  },
  "type": "amino-acid"
}