{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827321354",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 561,
          "referenceAllele": "R",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_001317467.1:p.Arg561His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8057737",
          "hgvs": "NM_001330538.2:c.1682G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271215[alleleid]",
        "alleleId": 271215,
        "preferredName": "NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286978",
        "RCV": [
          "RCV000276180",
          "RCV000325211",
          "RCV000382161",
          "RCV000725929",
          "RCV001243651",
          "RCV001271332",
          "RCV004021214",
          "RCV004529473",
          "RCV002487244"
        ],
        "variationId": 286978
      }
    ]
  },
  "type": "amino-acid"
}