{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826631193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 396,
          "referenceAllele": "Q",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_001268422.1:p.Gln396Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009674",
          "hgvs": "NM_001281493.2:c.1186C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162120"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94725[alleleid]",
        "alleleId": 94725,
        "preferredName": "NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89251",
        "RCV": [
          "RCV000130187",
          "RCV000480300",
          "RCV000524131",
          "RCV000662368",
          "RCV003320553",
          "RCV003466939"
        ],
        "variationId": 89251
      }
    ]
  },
  "type": "amino-acid"
}