{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825828106",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1156,
          "referenceAllele": "E",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136239.1:p.Glu1156Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA376518047",
          "hgvs": "NM_001142767.2:c.3468A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376518048",
          "hgvs": "NM_001142767.2:c.3468A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153526"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1108895[alleleid]",
        "alleleId": 1108895,
        "preferredName": "NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1120072",
        "RCV": [
          "RCV001449716"
        ],
        "variationId": 1120072
      }
    ]
  },
  "type": "amino-acid"
}