{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827322112",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1154,
          "referenceAllele": "V",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_001317467.1:p.Val1154Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8057257",
          "hgvs": "NM_001330538.2:c.3460G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242442[alleleid]",
        "alleleId": 242442,
        "preferredName": "NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241026",
        "RCV": [
          "RCV000232122",
          "RCV000271829",
          "RCV000302183",
          "RCV000359252",
          "RCV001271323",
          "RCV004532945"
        ],
        "variationId": 241026
      }
    ]
  },
  "type": "amino-acid"
}