{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828048287",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 550,
          "referenceAllele": "V",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NP_001342145.1:p.Val550Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008758",
          "hgvs": "NM_001355216.1:c.1648G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA008766",
          "hgvs": "NM_001355216.1:c.1648G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3060586028",
          "hgvs": "NM_001355216.1:c.1647_1648delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28985[alleleid]",
        "alleleId": 28985,
        "preferredName": "NM_020975.6(RET):c.2410G>T (p.Val804Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47217[alleleid]",
        "alleleId": 47217,
        "preferredName": "NM_020975.6(RET):c.2410G>C (p.Val804Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13946",
        "RCV": [
          "RCV000014973",
          "RCV000021854",
          "RCV000354366",
          "RCV000487450",
          "RCV000596480",
          "RCV000561258"
        ],
        "variationId": 13946
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38613",
        "RCV": [
          "RCV000021853",
          "RCV000419916",
          "RCV000425568",
          "RCV000426266",
          "RCV000436948",
          "RCV000437130",
          "RCV000479688",
          "RCV002453279",
          "RCV003226171"
        ],
        "variationId": 38613
      }
    ]
  },
  "type": "amino-acid"
}