{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580560010",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 49,
          "referenceAllele": "K",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016690",
      "geneNCBI_id": 375519,
      "geneSymbol": "GJB7",
      "hgvs": [
        "NP_940970.1:p.Lys49Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3915049",
          "hgvs": "NM_198568.3:c.146A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185177"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2217464[alleleid]",
        "alleleId": 2217464,
        "preferredName": "NM_198568.3(GJB7):c.146A>G (p.Lys49Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221535",
        "RCV": [
          "RCV004090013"
        ],
        "variationId": 2221535
      }
    ]
  },
  "type": "amino-acid"
}