{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826648104",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 136,
          "referenceAllele": "K",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NP_001269418.1:p.Lys136Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA184442",
          "hgvs": "NM_001282489.3:c.408G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400963706",
          "hgvs": "NM_001282489.3:c.408G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162452"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176500[alleleid]",
        "alleleId": 176500,
        "preferredName": "NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179451",
        "RCV": [
          "RCV000156240",
          "RCV001517890",
          "RCV003389459"
        ],
        "variationId": 179451
      }
    ]
  },
  "type": "amino-acid"
}