{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139732361",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "referenceAllele": "R",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "NP_060404.4:p.Arg110Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142188117",
          "hgvs": "NM_017934.7:c.328C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS644297"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964282[alleleid]",
        "alleleId": 964282,
        "preferredName": "NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/975951",
        "RCV": [
          "RCV001253094",
          "RCV001266056",
          "RCV001526636",
          "RCV002286830",
          "RCV004538536"
        ],
        "variationId": 975951
      }
    ]
  },
  "type": "amino-acid"
}