{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2579801093",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 425,
          "referenceAllele": "V",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Val425Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410397282",
          "hgvs": "NM_000071.3:c.1273G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410397285",
          "hgvs": "NM_000071.3:c.1273G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579803036",
          "hgvs": "NM_000071.3:c.1273_1275delinsCTT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579803037",
          "hgvs": "NM_000071.3:c.1273_1275delinsTTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2930258[alleleid]",
        "alleleId": 2930258,
        "preferredName": "NM_000071.3(CBS):c.1273G>C (p.Val425Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2772980",
        "RCV": [
          "RCV003496825"
        ],
        "variationId": 2772980
      }
    ]
  },
  "type": "amino-acid"
}