{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139696292",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "V",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001307227.1:p.Val314Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410599956",
          "hgvs": "NM_001320298.2:c.941T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579803201",
          "hgvs": "NM_001320298.2:c.941_942delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966848[alleleid]",
        "alleleId": 966848,
        "preferredName": "NM_000071.3(CBS):c.941T>C (p.Val314Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978771",
        "RCV": [
          "RCV001257457"
        ],
        "variationId": 978771
      }
    ]
  },
  "type": "amino-acid"
}