{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024760",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Gly29Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320927",
          "hgvs": "NM_001321072.1:c.85G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA321097659",
          "hgvs": "NM_001321072.1:c.85G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579809704",
          "hgvs": "NM_001321072.1:c.85_87delinsAGA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210440[alleleid]",
        "alleleId": 210440,
        "preferredName": "NM_000071.3(CBS):c.400G>A (p.Gly134Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=533942[alleleid]",
        "alleleId": 533942,
        "preferredName": "NM_000071.3(CBS):c.400G>C (p.Gly134Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212879",
        "RCV": [
          "RCV000196511",
          "RCV000469139",
          "RCV002517171"
        ],
        "variationId": 212879
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538695",
        "RCV": [
          "RCV000648115",
          "RCV002533344"
        ],
        "variationId": 538695
      }
    ]
  },
  "type": "amino-acid"
}