{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 194,
          "referenceAllele": "M",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_000157.1:p.Met194Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270643",
          "hgvs": "NM_000166.6:c.580A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165479[alleleid]",
        "alleleId": 165479,
        "preferredName": "NM_000166.6(GJB1):c.580A>G (p.Met194Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155725",
        "RCV": [
          "RCV000143794",
          "RCV002512552"
        ],
        "variationId": 155725
      }
    ]
  },
  "type": "amino-acid"
}