{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580425284",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 171,
          "referenceAllele": "V",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019154",
      "geneNCBI_id": 57369,
      "geneSymbol": "GJD2",
      "hgvs": [
        "NP_065711.1:p.Val171Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7466571",
          "hgvs": "NM_020660.3:c.511G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177010"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2231408[alleleid]",
        "alleleId": 2231408,
        "preferredName": "NM_020660.3(GJD2):c.511G>A (p.Val171Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2235924",
        "RCV": [
          "RCV004096490"
        ],
        "variationId": 2235924
      }
    ]
  },
  "type": "amino-acid"
}