{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830059756",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 54,
          "referenceAllele": "G",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025443",
      "geneNCBI_id": 83636,
      "geneSymbol": "C19orf12",
      "hgvs": [
        "NP_113636.2:p.Gly54Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9351930",
          "hgvs": "NM_031448.6:c.161G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179166"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389176[alleleid]",
        "alleleId": 389176,
        "preferredName": "NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402183",
        "RCV": [
          "RCV000454138",
          "RCV000486662",
          "RCV001095481"
        ],
        "variationId": 402183
      }
    ]
  },
  "type": "amino-acid"
}