{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829896181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1218,
          "referenceAllele": "H",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "NP_060798.2:p.His1218Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348729026",
          "hgvs": "NM_018328.5:c.3653A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176180"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3186454[alleleid]",
        "alleleId": 3186454,
        "preferredName": "NM_001378120.1(MBD5):c.4352A>C (p.His1451Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3026142",
        "RCV": [
          "RCV003884213"
        ],
        "variationId": 3026142
      }
    ]
  },
  "type": "amino-acid"
}