{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827043003",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 121,
          "referenceAllele": "R",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001307227.1:p.Arg121Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275933",
          "hgvs": "NM_001320298.2:c.362G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812217",
          "hgvs": "NM_001320298.2:c.362_363delinsTG"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812218",
          "hgvs": "NM_001320298.2:c.361_363delinsTTG"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812219",
          "hgvs": "NM_001320298.2:c.362_363delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204459[alleleid]",
        "alleleId": 204459,
        "preferredName": "NM_000071.3(CBS):c.362G>T (p.Arg121Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208177",
        "RCV": [
          "RCV000190373",
          "RCV001857669"
        ],
        "variationId": 208177
      }
    ]
  },
  "type": "amino-acid"
}