{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107962",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 203,
          "referenceAllele": "D",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NP_067628.1:p.Asp203Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250519",
          "hgvs": "NM_021615.5:c.609C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396790633",
          "hgvs": "NM_021615.5:c.609C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177504"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20111[alleleid]",
        "alleleId": 20111,
        "preferredName": "NM_021615.5(CHST6):c.609C>A (p.Asp203Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3715638[alleleid]",
        "alleleId": 3715638,
        "preferredName": "NM_021615.5(CHST6):c.609C>G (p.Asp203Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5072",
        "RCV": [
          "RCV000005376"
        ],
        "variationId": 5072
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3581255",
        "RCV": [
          "RCV005017772"
        ],
        "variationId": 3581255
      }
    ]
  },
  "type": "amino-acid"
}