{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128306",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 648,
          "referenceAllele": "V",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NP_066124.1:p.Val648Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008459",
          "hgvs": "NM_020975.6:c.1942G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177261"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28988[alleleid]",
        "alleleId": 28988,
        "preferredName": "NM_020975.6(RET):c.1942G>A (p.Val648Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13949",
        "RCV": [
          "RCV000014976",
          "RCV000034767",
          "RCV000163319",
          "RCV000442648",
          "RCV001082776"
        ],
        "variationId": 13949
      }
    ]
  },
  "type": "amino-acid"
}