{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580425278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 107,
          "referenceAllele": "R",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019154",
      "geneNCBI_id": 57369,
      "geneSymbol": "GJD2",
      "hgvs": [
        "NP_065711.1:p.Arg107His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391918123",
          "hgvs": "NM_020660.3:c.320G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177010"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2206805[alleleid]",
        "alleleId": 2206805,
        "preferredName": "NM_020660.3(GJD2):c.320G>A (p.Arg107His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2219486",
        "RCV": [
          "RCV004083485"
        ],
        "variationId": 2219486
      }
    ]
  },
  "type": "amino-acid"
}