{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916061888",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 267,
          "referenceAllele": "V",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025535",
      "geneNCBI_id": 55151,
      "geneSymbol": "TMEM38B",
      "hgvs": [
        "NP_060582.1:p.Val267Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5171016",
          "hgvs": "NM_018112.3:c.799G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175989"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=723236[alleleid]",
        "alleleId": 723236,
        "preferredName": "NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/708103",
        "RCV": [
          "RCV000879300",
          "RCV002536814",
          "RCV003653417",
          "RCV003940375"
        ],
        "variationId": 708103
      }
    ]
  },
  "type": "amino-acid"
}