{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826464519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 488,
          "referenceAllele": "S",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_001245210.1:p.Ser488Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018807",
          "hgvs": "NM_001258281.1:c.1462A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346728031",
          "hgvs": "NM_001258281.1:c.1464C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346728032",
          "hgvs": "NM_001258281.1:c.1464C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96191[alleleid]",
        "alleleId": 96191,
        "preferredName": "NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=558508[alleleid]",
        "alleleId": 558508,
        "preferredName": "NM_000251.3(MSH2):c.1662C>G (p.Ser554Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569255",
        "RCV": [
          "RCV000689839",
          "RCV003362893"
        ],
        "variationId": 569255
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1403555",
        "RCV": [
          "RCV001898807",
          "RCV002397878",
          "RCV003452120"
        ],
        "variationId": 1403555
      }
    ]
  },
  "type": "amino-acid"
}