{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 41,
          "referenceAllele": "R",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NP_000545.1:p.Arg41Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118790",
          "hgvs": "NM_000554.6:c.121C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3044589078",
          "hgvs": "NM_000554.6:c.120_121delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147089"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22457[alleleid]",
        "alleleId": 22457,
        "preferredName": "NM_000554.6(CRX):c.121C>T (p.Arg41Trp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3407775[alleleid]",
        "alleleId": 3407775,
        "preferredName": "NM_000554.6(CRX):c.120_121delinsTT (p.Arg41Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7418",
        "RCV": [
          "RCV000007843",
          "RCV000085989",
          "RCV001073396",
          "RCV001386169",
          "RCV003324484",
          "RCV003324485"
        ],
        "variationId": 7418
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3248970",
        "RCV": [
          "RCV004814235"
        ],
        "variationId": 3248970
      }
    ]
  },
  "type": "amino-acid"
}