{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826625772",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 319,
          "referenceAllele": "L",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_001268421.1:p.Leu319Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008516",
          "hgvs": "NM_001281492.2:c.956T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2850447133",
          "hgvs": "NM_001281492.2:c.954_956delinsCCC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162119"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94663[alleleid]",
        "alleleId": 94663,
        "preferredName": "NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89189",
        "RCV": [
          "RCV000074651",
          "RCV000491070",
          "RCV000627730",
          "RCV000576688",
          "RCV003466933",
          "RCV001804803",
          "RCV003137604"
        ],
        "variationId": 89189
      }
    ]
  },
  "type": "amino-acid"
}