{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "I",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NP_000156.1:p.Ile130Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365558896",
          "hgvs": "NM_000165.5:c.389T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=456047[alleleid]",
        "alleleId": 456047,
        "preferredName": "NM_000165.5(GJA1):c.389T>C (p.Ile130Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/470215",
        "RCV": [
          "RCV000549390"
        ],
        "variationId": 470215
      }
    ]
  },
  "type": "amino-acid"
}