{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828047730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 395,
          "referenceAllele": "S",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NP_001342145.1:p.Ser395Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008470",
          "hgvs": "NM_001355216.1:c.1184C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645541253",
          "hgvs": "NM_001355216.1:c.1184_1185delinsTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36269[alleleid]",
        "alleleId": 36269,
        "preferredName": "NM_020975.6(RET):c.1946C>T (p.Ser649Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/24928",
        "RCV": [
          "RCV000121978",
          "RCV000148770",
          "RCV000163375",
          "RCV000224141",
          "RCV001104573",
          "RCV000663272",
          "RCV001082257",
          "RCV001104575",
          "RCV001533539",
          "RCV001104572",
          "RCV001104574"
        ],
        "variationId": 24928
      }
    ]
  },
  "type": "amino-acid"
}