{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100084",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1729,
          "referenceAllele": "H",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NP_005111.2:p.His1729Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143732",
          "hgvs": "NM_005120.3:c.5185C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170779"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59422[alleleid]",
        "alleleId": 59422,
        "preferredName": "NM_005120.3(MED12):c.5185C>A (p.His1729Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50281",
        "RCV": [
          "RCV000043501",
          "RCV001580268"
        ],
        "variationId": 50281
      }
    ]
  },
  "type": "amino-acid"
}