{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Gly148Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042005",
          "hgvs": "NM_000071.3:c.442G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410601635",
          "hgvs": "NM_000071.3:c.442G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579809668",
          "hgvs": "NM_000071.3:c.442_444delinsAGA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579809669",
          "hgvs": "NM_000071.3:c.442_444delinsCGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358643[alleleid]",
        "alleleId": 358643,
        "preferredName": "NM_000071.3(CBS):c.442G>A (p.Gly148Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371512",
        "RCV": [
          "RCV000411624",
          "RCV001193389",
          "RCV002230731",
          "RCV002328897",
          "RCV003314591"
        ],
        "variationId": 371512
      }
    ]
  },
  "type": "amino-acid"
}