{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 279,
          "referenceAllele": "D",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NP_775748.2:p.Asp279Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182580",
          "hgvs": "NM_173477.5:c.837C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400963030",
          "hgvs": "NM_173477.5:c.837C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183358"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176637[alleleid]",
        "alleleId": 176637,
        "preferredName": "NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178570",
        "RCV": [
          "RCV000155318",
          "RCV000725682",
          "RCV000999863",
          "RCV004544436"
        ],
        "variationId": 178570
      }
    ]
  },
  "type": "amino-acid"
}