{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139763239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_996816.3:p.Gly1671Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA185105",
          "hgvs": "NM_206933.4:c.5012G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172388[alleleid]",
        "alleleId": 172388,
        "preferredName": "NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179773",
        "RCV": [
          "RCV000156571",
          "RCV000505112",
          "RCV000725477",
          "RCV001004787",
          "RCV004528894",
          "RCV003462063",
          "RCV003991016"
        ],
        "variationId": 179773
      }
    ]
  },
  "type": "amino-acid"
}