{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826666105",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1062,
          "referenceAllele": "S",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269607.1:p.Ser1062Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4340719",
          "hgvs": "NM_001282678.2:c.3186T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA4340720",
          "hgvs": "NM_001282678.2:c.3186T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368158385",
          "hgvs": "NM_001282678.2:c.3184A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247025[alleleid]",
        "alleleId": 247025,
        "preferredName": "NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1772461[alleleid]",
        "alleleId": 1772461,
        "preferredName": "NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252486",
        "RCV": [
          "RCV000239086",
          "RCV000886828",
          "RCV001507190",
          "RCV003939908"
        ],
        "variationId": 252486
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1719805",
        "RCV": [
          "RCV002303990"
        ],
        "variationId": 1719805
      }
    ]
  },
  "type": "amino-acid"
}