{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829689013",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 656,
          "referenceAllele": "D",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_009054.6:p.Asp656Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143431",
          "hgvs": "NM_007123.6:c.1966G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57643[alleleid]",
        "alleleId": 57643,
        "preferredName": "NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48481",
        "RCV": [
          "RCV000041804",
          "RCV000505164",
          "RCV000627016",
          "RCV000658550",
          "RCV001075196",
          "RCV001099033",
          "RCV001171539",
          "RCV002483035",
          "RCV004541217"
        ],
        "variationId": 48481
      }
    ]
  },
  "type": "amino-acid"
}