{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826463685",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 283,
          "referenceAllele": "P",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_001245210.1:p.Pro283Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016990",
          "hgvs": "NM_001258281.1:c.848C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95989[alleleid]",
        "alleleId": 95989,
        "preferredName": "NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90514",
        "RCV": [
          "RCV000076009",
          "RCV000217955",
          "RCV000508278",
          "RCV000694503",
          "RCV003452797"
        ],
        "variationId": 90514
      }
    ]
  },
  "type": "amino-acid"
}