{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827042992",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001307227.1:p.Ala114Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321097892",
          "hgvs": "NM_001320298.2:c.340G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579813316",
          "hgvs": "NM_001320298.2:c.340_342delinsTCT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579813317",
          "hgvs": "NM_001320298.2:c.340_342delinsTCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1459874[alleleid]",
        "alleleId": 1459874,
        "preferredName": "NM_000071.3(CBS):c.340G>T (p.Ala114Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1522679",
        "RCV": [
          "RCV002036189"
        ],
        "variationId": 1522679
      }
    ]
  },
  "type": "amino-acid"
}