{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 172,
          "referenceAllele": "P",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_000157.1:p.Pro172Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA255232",
          "hgvs": "NM_000166.6:c.514C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25471[alleleid]",
        "alleleId": 25471,
        "preferredName": "NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10432",
        "RCV": [
          "RCV000011177",
          "RCV001090308",
          "RCV001053029"
        ],
        "variationId": 10432
      }
    ]
  },
  "type": "amino-acid"
}