{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827851616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1847,
          "referenceAllele": "T",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001341333.1:p.Thr1847del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138483",
          "hgvs": "NM_001354404.1:c.5535_5537del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3265270744",
          "hgvs": "NM_001354404.1:c.5538_5540del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625571"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55670[alleleid]",
        "alleleId": 55670,
        "preferredName": "NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46505",
        "RCV": [
          "RCV000039764",
          "RCV000215699",
          "RCV000514811",
          "RCV001272395",
          "RCV002490550",
          "RCV002277128"
        ],
        "variationId": 46505
      }
    ]
  },
  "type": "amino-acid"
}