{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828364666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 457,
          "referenceAllele": "D",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "NP_001356799.1:p.Asp457Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA133540",
          "hgvs": "NM_001369870.1:c.1371C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA373531496",
          "hgvs": "NM_001369870.1:c.1371C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709364"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53259[alleleid]",
        "alleleId": 53259,
        "preferredName": "NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44091",
        "RCV": [
          "RCV000037067",
          "RCV001838537",
          "RCV001838538",
          "RCV002054636"
        ],
        "variationId": 44091
      }
    ]
  },
  "type": "amino-acid"
}