{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825556917",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "V",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NP_001103689.1:p.Val71Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6904492",
          "hgvs": "NM_001110219.3:c.212T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151631"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=870853[alleleid]",
        "alleleId": 870853,
        "preferredName": "NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/881662",
        "RCV": [
          "RCV001110826",
          "RCV001563386",
          "RCV001862881"
        ],
        "variationId": 881662
      }
    ]
  },
  "type": "amino-acid"
}