{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094716",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 167,
          "referenceAllele": "D",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Asp167His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021225",
          "hgvs": "NM_000251.3:c.499G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96587[alleleid]",
        "alleleId": 96587,
        "preferredName": "NM_000251.3(MSH2):c.499G>C (p.Asp167His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/91112",
        "RCV": [
          "RCV000076615",
          "RCV000148629",
          "RCV000115533",
          "RCV000200986",
          "RCV000524411",
          "RCV001284654",
          "RCV004537297",
          "RCV003492425"
        ],
        "variationId": 91112
      }
    ]
  },
  "type": "amino-acid"
}