{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829624570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 287,
          "referenceAllele": "R",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NP_005893.1:p.Arg287Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA392956411",
          "hgvs": "NM_005902.4:c.860G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171493"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3229462[alleleid]",
        "alleleId": 3229462,
        "preferredName": "NM_005902.4(SMAD3):c.860G>T (p.Arg287Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3074495",
        "RCV": [
          "RCV004014029"
        ],
        "variationId": 3074495
      }
    ]
  },
  "type": "amino-acid"
}