{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465346",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 16,
          "referenceAllele": "L",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NP_775748.2:p.Leu16Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10576353",
          "hgvs": "NM_173477.5:c.46C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183358"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228237[alleleid]",
        "alleleId": 228237,
        "preferredName": "NM_173477.5(USH1G):c.46C>G (p.Leu16Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226440",
        "RCV": [
          "RCV000220910",
          "RCV002515610"
        ],
        "variationId": 226440
      }
    ]
  },
  "type": "amino-acid"
}