{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172233",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 139,
          "referenceAllele": "S",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Ser139Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172232",
          "hgvs": "NM_004004.6:c.416G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53916[alleleid]",
        "alleleId": 53916,
        "preferredName": "NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44749",
        "RCV": [
          "RCV000037851",
          "RCV000146022",
          "RCV000289146",
          "RCV000255015",
          "RCV000409236",
          "RCV000515309",
          "RCV000678884",
          "RCV001004388",
          "RCV001109787",
          "RCV001844020"
        ],
        "variationId": 44749
      }
    ]
  },
  "type": "amino-acid"
}