{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 294,
          "referenceAllele": "M",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Met294Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162131",
          "hgvs": "NM_005359.6:c.880A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138983[alleleid]",
        "alleleId": 138983,
        "preferredName": "NM_005359.6(SMAD4):c.880A>G (p.Met294Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135244",
        "RCV": [
          "RCV000129038",
          "RCV000122058",
          "RCV000195767",
          "RCV002310678",
          "RCV000586799",
          "RCV001450076",
          "RCV003315778",
          "RCV003925209"
        ],
        "variationId": 135244
      }
    ]
  },
  "type": "amino-acid"
}