{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645382171",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "referenceAllele": "V",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025018",
      "geneNCBI_id": 51259,
      "geneSymbol": "TMEM216",
      "hgvs": [
        "NP_001167462.1:p.Val47Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6034711",
          "hgvs": "NM_001173991.3:c.140T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156102"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274218[alleleid]",
        "alleleId": 274218,
        "preferredName": "NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289981",
        "RCV": [
          "RCV000291175",
          "RCV000345935",
          "RCV000401686",
          "RCV001240998",
          "RCV001788191"
        ],
        "variationId": 289981
      }
    ]
  },
  "type": "amino-acid"
}