{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501462",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "Y",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_056087.2:p.Tyr362Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8057930",
          "hgvs": "NM_015272.2:c.1085A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=343286[alleleid]",
        "alleleId": 343286,
        "preferredName": "NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319664",
        "RCV": [
          "RCV000272277",
          "RCV000308698",
          "RCV000362256",
          "RCV001239253",
          "RCV001828320",
          "RCV002487410",
          "RCV004537802",
          "RCV004021665"
        ],
        "variationId": 319664
      }
    ]
  },
  "type": "amino-acid"
}