{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330553",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1227,
          "referenceAllele": "I",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Ile1227Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013789",
          "hgvs": "NM_000179.3:c.3679A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346760894",
          "hgvs": "NM_000179.3:c.3679A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94919[alleleid]",
        "alleleId": 94919,
        "preferredName": "NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89445",
        "RCV": [
          "RCV000217680",
          "RCV000574037",
          "RCV000625244",
          "RCV001854284"
        ],
        "variationId": 89445
      }
    ]
  },
  "type": "amino-acid"
}