{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA353657",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Cys1444Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353655",
          "hgvs": "NM_000138.5:c.4330T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392317541",
          "hgvs": "NM_000138.5:c.4331G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224497[alleleid]",
        "alleleId": 224497,
        "preferredName": "NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1451389[alleleid]",
        "alleleId": 1451389,
        "preferredName": "NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222604",
        "RCV": [
          "RCV000208295",
          "RCV000818296"
        ],
        "variationId": 222604
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453863",
        "RCV": [
          "RCV001960512"
        ],
        "variationId": 1453863
      }
    ]
  },
  "type": "amino-acid"
}