{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 203,
          "referenceAllele": "R",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030032",
      "geneNCBI_id": 55690,
      "geneSymbol": "PACS1",
      "hgvs": [
        "NP_060496.2:p.Arg203Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204795",
          "hgvs": "NM_018026.4:c.607C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175911"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48180[alleleid]",
        "alleleId": 48180,
        "preferredName": "NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39581",
        "RCV": [
          "RCV000032781",
          "RCV000210719",
          "RCV000429725",
          "RCV000735338",
          "RCV001095741",
          "RCV001310258",
          "RCV001255394",
          "RCV001375021",
          "RCV002251940",
          "RCV003398585"
        ],
        "variationId": 39581
      }
    ]
  },
  "type": "amino-acid"
}