{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828375768",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 40,
          "referenceAllele": "A",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NP_001357021.1:p.Ala40Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6904506",
          "hgvs": "NM_001370092.1:c.119C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413171[alleleid]",
        "alleleId": 413171,
        "preferredName": "NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424855",
        "RCV": [
          "RCV000487477",
          "RCV001856883",
          "RCV002265780"
        ],
        "variationId": 424855
      }
    ]
  },
  "type": "amino-acid"
}