{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915994643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 191,
          "referenceAllele": "S",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Ser191Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8965832",
          "hgvs": "NM_005359.6:c.572C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=814542[alleleid]",
        "alleleId": 814542,
        "preferredName": "NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/825928",
        "RCV": [
          "RCV001024458",
          "RCV001040401",
          "RCV002327231",
          "RCV003442150",
          "RCV004004650"
        ],
        "variationId": 825928
      }
    ]
  },
  "type": "amino-acid"
}