{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111304",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 231,
          "referenceAllele": "G",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_998764.1:p.Gly231Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224418",
          "hgvs": "NM_213599.3:c.692G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17204[alleleid]",
        "alleleId": 17204,
        "preferredName": "NM_213599.3(ANO5):c.692G>T (p.Gly231Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2165",
        "RCV": [
          "RCV000002249",
          "RCV000082853",
          "RCV000369126",
          "RCV000627782",
          "RCV000762830",
          "RCV000825558",
          "RCV003993730",
          "RCV003993729"
        ],
        "variationId": 2165
      }
    ]
  },
  "type": "amino-acid"
}