{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139764478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 3521,
          "referenceAllele": "W",
          "start": 3520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_996816.3:p.Trp3521Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA262058",
          "hgvs": "NM_206933.4:c.10561T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344837377",
          "hgvs": "NM_206933.4:c.10561T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57514[alleleid]",
        "alleleId": 57514,
        "preferredName": "NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1479696[alleleid]",
        "alleleId": 1479696,
        "preferredName": "NM_206933.4(USH2A):c.10561T>A (p.Trp3521Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48352",
        "RCV": [
          "RCV000041673",
          "RCV000504880",
          "RCV000665210",
          "RCV000824783",
          "RCV001074824",
          "RCV001056065",
          "RCV002287354",
          "RCV001376413"
        ],
        "variationId": 48352
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1376832",
        "RCV": [
          "RCV001888190"
        ],
        "variationId": 1376832
      }
    ]
  },
  "type": "amino-acid"
}