{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829688613",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 483,
          "referenceAllele": "T",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_009054.6:p.Thr483Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA183926",
          "hgvs": "NM_007123.6:c.1448C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172782[alleleid]",
        "alleleId": 172782,
        "preferredName": "NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179193",
        "RCV": [
          "RCV000155979",
          "RCV000666822",
          "RCV000943628"
        ],
        "variationId": 179193
      }
    ]
  },
  "type": "amino-acid"
}