{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580261571",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "P",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Pro189Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402133441",
          "hgvs": "NM_001943.5:c.565C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580095601",
          "hgvs": "NM_001943.5:c.564_565delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1894095[alleleid]",
        "alleleId": 1894095,
        "preferredName": "NM_001943.5(DSG2):c.564_565delinsAA (p.Pro189Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3545714[alleleid]",
        "alleleId": 3545714,
        "preferredName": "NM_001943.5(DSG2):c.565C>A (p.Pro189Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2159204",
        "RCV": [
          "RCV003085889"
        ],
        "variationId": 2159204
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3386575",
        "RCV": [
          "RCV004805991"
        ],
        "variationId": 3386575
      }
    ]
  },
  "type": "amino-acid"
}