{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829688293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 346,
          "referenceAllele": "N",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_009054.6:p.Asn346His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA262054",
          "hgvs": "NM_007123.6:c.1036A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57509[alleleid]",
        "alleleId": 57509,
        "preferredName": "NM_206933.4(USH2A):c.1036A>C (p.Asn346His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48347",
        "RCV": [
          "RCV000041668",
          "RCV000710349",
          "RCV000727128",
          "RCV001074772",
          "RCV000411779",
          "RCV001723627",
          "RCV000824797"
        ],
        "variationId": 48347
      }
    ]
  },
  "type": "amino-acid"
}