{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057560830",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 63,
          "referenceAllele": "V",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Val63Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410601371",
          "hgvs": "NM_001321072.1:c.187G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410601372",
          "hgvs": "NM_001321072.1:c.187G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579803311",
          "hgvs": "NM_001321072.1:c.187_189delinsTTA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579803312",
          "hgvs": "NM_001321072.1:c.187_189delinsCTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3495161[alleleid]",
        "alleleId": 3495161,
        "preferredName": "NM_000071.3(CBS):c.502G>C (p.Val168Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3336484",
        "RCV": [
          "RCV004691064"
        ],
        "variationId": 3336484
      }
    ]
  },
  "type": "amino-acid"
}