{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499283953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 241,
          "referenceAllele": "M",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NP_060352.1:p.Met241Ile"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA272382848",
          "hgvs": "NM_017882.3:c.723G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA272382849",
          "hgvs": "NM_017882.3:c.723G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392972139",
          "hgvs": "NM_017882.3:c.723G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017967[alleleid]",
        "alleleId": 1017967,
        "preferredName": "NM_017882.3(CLN6):c.723G>T (p.Met241Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1943461[alleleid]",
        "alleleId": 1943461,
        "preferredName": "NM_017882.3(CLN6):c.723G>C (p.Met241Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029493",
        "RCV": [
          "RCV001330791"
        ],
        "variationId": 1029493
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2415022",
        "RCV": [
          "RCV003110441",
          "RCV003162121",
          "RCV003992743"
        ],
        "variationId": 2415022
      }
    ]
  },
  "type": "amino-acid"
}