{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139763024",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1511,
          "referenceAllele": "A",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_996816.3:p.Ala1511Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143485",
          "hgvs": "NM_206933.4:c.4532C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57679[alleleid]",
        "alleleId": 57679,
        "preferredName": "NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48517",
        "RCV": [
          "RCV000041843",
          "RCV001033957",
          "RCV003450845",
          "RCV003450846"
        ],
        "variationId": 48517
      }
    ]
  },
  "type": "amino-acid"
}