{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132962",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "R",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Arg336Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274154",
          "hgvs": "NM_001178008.3:c.1006C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16621014",
          "hgvs": "NM_001178008.3:c.1005_1006delinsTT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812126",
          "hgvs": "NM_001178008.3:c.1006_1008delinsTGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98334[alleleid]",
        "alleleId": 98334,
        "preferredName": "NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410878[alleleid]",
        "alleleId": 410878,
        "preferredName": "NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92423",
        "RCV": [
          "RCV000078105",
          "RCV000169310",
          "RCV001280568",
          "RCV002228199",
          "RCV003905038"
        ],
        "variationId": 92423
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419185",
        "RCV": [
          "RCV000487415",
          "RCV002230902"
        ],
        "variationId": 419185
      }
    ]
  },
  "type": "amino-acid"
}