{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182603",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1683,
          "referenceAllele": "N",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_996816.2:p.Asn1683Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182602",
          "hgvs": "NM_206933.3:c.5048A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185852"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172387[alleleid]",
        "alleleId": 172387,
        "preferredName": "NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167816",
        "RCV": [
          "RCV000155329",
          "RCV001273050",
          "RCV000723740",
          "RCV004732716",
          "RCV004815235"
        ],
        "variationId": 167816
      }
    ]
  },
  "type": "amino-acid"
}