{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828375558",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 37,
          "referenceAllele": "V",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NP_001357019.1:p.Val37Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253530",
          "hgvs": "NM_001370090.1:c.110T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20586[alleleid]",
        "alleleId": 20586,
        "preferredName": "NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5547",
        "RCV": [
          "RCV000005886"
        ],
        "variationId": 5547
      }
    ]
  },
  "type": "amino-acid"
}