{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330347",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 378,
          "referenceAllele": "R",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Arg378Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008097",
          "hgvs": "NM_000179.3:c.1133G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2838032275",
          "hgvs": "NM_000179.3:c.1133_1135delinsAAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94647[alleleid]",
        "alleleId": 94647,
        "preferredName": "NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89173",
        "RCV": [
          "RCV000479933",
          "RCV000569385",
          "RCV000629837",
          "RCV001290538",
          "RCV001358106",
          "RCV003997062"
        ],
        "variationId": 89173
      }
    ]
  },
  "type": "amino-acid"
}