{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 438,
          "referenceAllele": "R",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NP_000548.2:p.Arg438Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119569",
          "hgvs": "NM_000557.5:c.1313G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573157055",
          "hgvs": "NM_000557.5:c.1313_1314delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147091"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23425[alleleid]",
        "alleleId": 23425,
        "preferredName": "NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1351243[alleleid]",
        "alleleId": 1351243,
        "preferredName": "NM_000557.5(GDF5):c.1313_1314delinsTT (p.Arg438Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8386",
        "RCV": [
          "RCV000008893",
          "RCV000008894"
        ],
        "variationId": 8386
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1450722",
        "RCV": [
          "RCV001992913"
        ],
        "variationId": 1450722
      }
    ]
  },
  "type": "amino-acid"
}