{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024441",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 371,
          "referenceAllele": "V",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001307227.1:p.Val371Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320805",
          "hgvs": "NM_001320298.2:c.1111G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210411[alleleid]",
        "alleleId": 210411,
        "preferredName": "NM_000071.3(CBS):c.1111G>A (p.Val371Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212862",
        "RCV": [
          "RCV000196393",
          "RCV000410135",
          "RCV002229026",
          "RCV003401061",
          "RCV002433873",
          "RCV003895256"
        ],
        "variationId": 212862
      }
    ]
  },
  "type": "amino-acid"
}