{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215576",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 889,
          "referenceAllele": "Q",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Gln889His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010704",
          "hgvs": "NM_000179.3:c.2667G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346755231",
          "hgvs": "NM_000179.3:c.2667G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50030[alleleid]",
        "alleleId": 50030,
        "preferredName": "NM_000179.3(MSH6):c.2667G>T (p.Gln889His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2858645[alleleid]",
        "alleleId": 2858645,
        "preferredName": "NM_000179.3(MSH6):c.2667G>C (p.Gln889His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41591",
        "RCV": [
          "RCV000034496",
          "RCV000115393",
          "RCV000235185",
          "RCV000410628",
          "RCV001080247",
          "RCV003492327"
        ],
        "variationId": 41591
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2698505",
        "RCV": [
          "RCV003594839"
        ],
        "variationId": 2698505
      }
    ]
  },
  "type": "amino-acid"
}