{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Thr269Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016470",
          "hgvs": "NM_000179.3:c.806C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346740355",
          "hgvs": "NM_000179.3:c.805A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95042[alleleid]",
        "alleleId": 95042,
        "preferredName": "NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=473024[alleleid]",
        "alleleId": 473024,
        "preferredName": "NM_000179.3(MSH6):c.805A>T (p.Thr269Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89568",
        "RCV": [
          "RCV000568144",
          "RCV000684794",
          "RCV000759873",
          "RCV002267836",
          "RCV002504983",
          "RCV003997104"
        ],
        "variationId": 89568
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/479870",
        "RCV": [
          "RCV000564981"
        ],
        "variationId": 479870
      }
    ]
  },
  "type": "amino-acid"
}