{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826464821",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 556,
          "referenceAllele": "P",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_001245210.1:p.Pro556Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346728465",
          "hgvs": "NM_001258281.1:c.1667C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=416960[alleleid]",
        "alleleId": 416960,
        "preferredName": "NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427606",
        "RCV": [
          "RCV002413352",
          "RCV000780453",
          "RCV003449268"
        ],
        "variationId": 427606
      }
    ]
  },
  "type": "amino-acid"
}