{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103207",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 572,
          "referenceAllele": "V",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NP_005467.1:p.Val572Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274932",
          "hgvs": "NM_005476.7:c.1714G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA373425687",
          "hgvs": "NM_005476.7:c.1714G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171104"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21072[alleleid]",
        "alleleId": 21072,
        "preferredName": "NM_005476.7(GNE):c.1714G>C (p.Val572Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4866836[alleleid]",
        "alleleId": 4866836,
        "preferredName": "NM_005476.7(GNE):c.1714G>T (p.Val572Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6033",
        "RCV": [
          "RCV000006404",
          "RCV000724160",
          "RCV001217981"
        ],
        "variationId": 6033
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4755497",
        "RCV": [
          "RCV006553819"
        ],
        "variationId": 4755497
      }
    ]
  },
  "type": "amino-acid"
}