{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "P",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NP_000156.1:p.Pro193Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365559326",
          "hgvs": "NM_000165.5:c.577C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=933150[alleleid]",
        "alleleId": 933150,
        "preferredName": "NM_000165.5(GJA1):c.577C>G (p.Pro193Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/941061",
        "RCV": [
          "RCV001210771"
        ],
        "variationId": 941061
      }
    ]
  },
  "type": "amino-acid"
}