{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827070548",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Ala250Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321689840",
          "hgvs": "NM_001321072.1:c.749C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812865",
          "hgvs": "NM_001321072.1:c.749_750delinsTA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812866",
          "hgvs": "NM_001321072.1:c.749_750delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491271[alleleid]",
        "alleleId": 491271,
        "preferredName": "NM_000071.3(CBS):c.1064C>T (p.Ala355Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499847",
        "RCV": [
          "RCV000598006",
          "RCV002532486"
        ],
        "variationId": 499847
      }
    ]
  },
  "type": "amino-acid"
}