{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645418353",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 220,
          "referenceAllele": "M",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NP_065099.3:p.Met220Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7088724",
          "hgvs": "NM_020366.4:c.658A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320294[alleleid]",
        "alleleId": 320294,
        "preferredName": "NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/312783",
        "RCV": [
          "RCV000329549",
          "RCV000384076",
          "RCV000983971"
        ],
        "variationId": 312783
      }
    ]
  },
  "type": "amino-acid"
}