{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA321748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 427,
          "referenceAllele": "P",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Pro427Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321746",
          "hgvs": "NM_000071.3:c.1280C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805633",
          "hgvs": "NM_000071.3:c.1280_1281delinsTA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805634",
          "hgvs": "NM_000071.3:c.1280_1281delinsTT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805635",
          "hgvs": "NM_000071.3:c.1279_1280delinsTT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805636",
          "hgvs": "NM_000071.3:c.1280_1281delinsTC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210403[alleleid]",
        "alleleId": 210403,
        "preferredName": "NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212867",
        "RCV": [
          "RCV000197292",
          "RCV000584030",
          "RCV002517170",
          "RCV003462306"
        ],
        "variationId": 212867
      }
    ]
  },
  "type": "amino-acid"
}