{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829690179",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_009054.6:p.Gly1301Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143472",
          "hgvs": "NM_007123.6:c.3902G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57671[alleleid]",
        "alleleId": 57671,
        "preferredName": "NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48509",
        "RCV": [
          "RCV000041835",
          "RCV000219904",
          "RCV000505069",
          "RCV000488230",
          "RCV000787994",
          "RCV000986538",
          "RCV001376513",
          "RCV002496665",
          "RCV004537151"
        ],
        "variationId": 48509
      }
    ]
  },
  "type": "amino-acid"
}