{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916061883",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 250,
          "referenceAllele": "P",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025535",
      "geneNCBI_id": 55151,
      "geneSymbol": "TMEM38B",
      "hgvs": [
        "NP_060582.1:p.Pro250Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5171001",
          "hgvs": "NM_018112.3:c.748C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175989"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=723235[alleleid]",
        "alleleId": 723235,
        "preferredName": "NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/716663",
        "RCV": [
          "RCV000889340",
          "RCV002279614",
          "RCV003226405",
          "RCV003957920"
        ],
        "variationId": 716663
      }
    ]
  },
  "type": "amino-acid"
}