{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA299960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "P",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Pro203Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA299958",
          "hgvs": "NM_005359.6:c.607C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181035[alleleid]",
        "alleleId": 181035,
        "preferredName": "NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182868",
        "RCV": [
          "RCV000160958",
          "RCV000534543",
          "RCV000561819",
          "RCV002313013",
          "RCV003474835"
        ],
        "variationId": 182868
      }
    ]
  },
  "type": "amino-acid"
}