{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658660246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006772",
      "geneNCBI_id": 4091,
      "geneSymbol": "SMAD6",
      "hgvs": [
        "NP_005576.3:p.Cys484Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393202564",
          "hgvs": "NM_005585.5:c.1451G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171208"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445406[alleleid]",
        "alleleId": 445406,
        "preferredName": "NM_005585.5(SMAD6):c.1451G>A (p.Cys484Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449626",
        "RCV": [
          "RCV000520660"
        ],
        "variationId": 449626
      }
    ]
  },
  "type": "amino-acid"
}