{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172225",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12,
          "referenceAllele": "G",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Gly12Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172224",
          "hgvs": "NM_004004.6:c.34G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53907[alleleid]",
        "alleleId": 53907,
        "preferredName": "NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44740",
        "RCV": [
          "RCV000037839",
          "RCV000080371",
          "RCV000146017",
          "RCV000411497",
          "RCV000410006",
          "RCV000678859",
          "RCV000762906",
          "RCV000844703",
          "RCV001004399",
          "RCV002247424",
          "RCV003224797",
          "RCV003488357"
        ],
        "variationId": 44740
      }
    ]
  },
  "type": "amino-acid"
}