{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096757",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 262,
          "referenceAllele": "T",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Thr262Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275440",
          "hgvs": "NM_000071.3:c.785C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196148[alleleid]",
        "alleleId": 196148,
        "preferredName": "NM_000071.3(CBS):c.785C>T (p.Thr262Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198988",
        "RCV": [
          "RCV000180461",
          "RCV000200469",
          "RCV001251422",
          "RCV002228800"
        ],
        "variationId": 198988
      }
    ]
  },
  "type": "amino-acid"
}