{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162130",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "R",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Arg189Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162128",
          "hgvs": "NM_005359.6:c.565C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50228[alleleid]",
        "alleleId": 50228,
        "preferredName": "NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41789",
        "RCV": [
          "RCV000034711",
          "RCV000115884",
          "RCV000122057",
          "RCV000196842",
          "RCV001507132",
          "RCV002310998",
          "RCV003315550"
        ],
        "variationId": 41789
      }
    ]
  },
  "type": "amino-acid"
}