{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA331229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 382,
          "referenceAllele": "R",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Arg382His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017350",
          "hgvs": "NM_000251.3:c.1145G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96028[alleleid]",
        "alleleId": 96028,
        "preferredName": "NM_000251.3(MSH2):c.1145G>A (p.Arg382His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90553",
        "RCV": [
          "RCV000487066",
          "RCV000568561",
          "RCV000663061",
          "RCV000703497",
          "RCV003149744",
          "RCV003997141"
        ],
        "variationId": 90553
      }
    ]
  },
  "type": "amino-acid"
}