{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891846898",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "N",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Asn127Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346730352",
          "hgvs": "NM_000251.3:c.380A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=558488[alleleid]",
        "alleleId": 558488,
        "preferredName": "NM_000251.3(MSH2):c.380A>C (p.Asn127Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/572259",
        "RCV": [
          "RCV000693598",
          "RCV003584715",
          "RCV003999599"
        ],
        "variationId": 572259
      }
    ]
  },
  "type": "amino-acid"
}