{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075571",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 660,
          "referenceAllele": "V",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365544.1:p.Val660Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206244",
          "hgvs": "NM_001378615.1:c.1978G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356411981",
          "hgvs": "NM_001378615.1:c.1978G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191879[alleleid]",
        "alleleId": 191879,
        "preferredName": "NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194716",
        "RCV": [
          "RCV000193025",
          "RCV000351496",
          "RCV000514696",
          "RCV000404783",
          "RCV001083444"
        ],
        "variationId": 194716
      }
    ]
  },
  "type": "amino-acid"
}