{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA198807",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Met1Val"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53896[alleleid]",
        "alleleId": 53896,
        "preferredName": "NM_004004.6(GJB2):c.1A>G (p.Met1Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44729",
        "RCV": [
          "RCV000037821",
          "RCV000211762",
          "RCV000724654",
          "RCV000762907",
          "RCV003990963"
        ],
        "variationId": 44729
      }
    ]
  },
  "type": "amino-acid"
}