{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172207",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "M",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Met34Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172206",
          "hgvs": "NM_004004.6:c.101T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32039[alleleid]",
        "alleleId": 32039,
        "preferredName": "NM_004004.6(GJB2):c.101T>C (p.Met34Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17000",
        "RCV": [
          "RCV000018523",
          "RCV000080364",
          "RCV000211758",
          "RCV000487479",
          "RCV000678866",
          "RCV000844701",
          "RCV001027827",
          "RCV001004397",
          "RCV001270137",
          "RCV001266565",
          "RCV001375142",
          "RCV002251910",
          "RCV003322590"
        ],
        "variationId": 17000
      }
    ]
  },
  "type": "amino-acid"
}