{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825881353",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 230,
          "referenceAllele": "L",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NP_001138575.1:p.Leu230His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA392956332",
          "hgvs": "NM_001145103.2:c.689T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153935"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3229740[alleleid]",
        "alleleId": 3229740,
        "preferredName": "NM_005902.4(SMAD3):c.821T>A (p.Leu274His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3074774",
        "RCV": [
          "RCV004014308"
        ],
        "variationId": 3074774
      }
    ]
  },
  "type": "amino-acid"
}