{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829595896",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 340,
          "referenceAllele": "D",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004279",
      "geneNCBI_id": 2702,
      "geneSymbol": "GJA5",
      "hgvs": [
        "NP_005257.2:p.Asp340Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342393593",
          "hgvs": "NM_005266.7:c.1020C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA342393594",
          "hgvs": "NM_005266.7:c.1020C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101468[alleleid]",
        "alleleId": 3101468,
        "preferredName": "NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2944297",
        "RCV": [
          "RCV003806047"
        ],
        "variationId": 2944297
      }
    ]
  },
  "type": "amino-acid"
}