{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499229133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 48,
          "referenceAllele": "E",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NP_000156.1:p.Glu48Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365558001",
          "hgvs": "NM_000165.5:c.142G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016635[alleleid]",
        "alleleId": 1016635,
        "preferredName": "NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028586",
        "RCV": [
          "RCV001329666",
          "RCV001378531"
        ],
        "variationId": 1028586
      }
    ]
  },
  "type": "amino-acid"
}