{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501363",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 57,
          "referenceAllele": "L",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_056087.2:p.Leu57Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8058197",
          "hgvs": "NM_015272.2:c.171G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA395925933",
          "hgvs": "NM_015272.2:c.171G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=343293[alleleid]",
        "alleleId": 343293,
        "preferredName": "NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319670",
        "RCV": [
          "RCV000262935",
          "RCV000298218",
          "RCV000353091",
          "RCV000489212",
          "RCV001081628"
        ],
        "variationId": 319670
      }
    ]
  },
  "type": "amino-acid"
}