{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172227",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 120,
          "referenceAllele": "E",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Glu120del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172226",
          "hgvs": "NM_004004.6:c.358_360del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32045[alleleid]",
        "alleleId": 32045,
        "preferredName": "NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17006",
        "RCV": [
          "RCV000018530",
          "RCV000146018",
          "RCV000211776",
          "RCV000678881",
          "RCV001257563",
          "RCV000520132",
          "RCV002496401"
        ],
        "variationId": 17006
      }
    ]
  },
  "type": "amino-acid"
}