{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915983359",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001244895.1:p.Gly710Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228001",
          "hgvs": "NM_001257966.2:c.2128G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA1312035",
          "hgvs": "NM_001257966.2:c.2128G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160113"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105764[alleleid]",
        "alleleId": 105764,
        "preferredName": "NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1475631[alleleid]",
        "alleleId": 1475631,
        "preferredName": "NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99875",
        "RCV": [
          "RCV000086313",
          "RCV001250598",
          "RCV003764800"
        ],
        "variationId": 99875
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1469683",
        "RCV": [
          "RCV001961694"
        ],
        "variationId": 1469683
      }
    ]
  },
  "type": "amino-acid"
}