{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325156",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1152,
          "referenceAllele": "M",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NP_001990.2:p.Met1152Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325155",
          "hgvs": "NM_001999.4:c.3456G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA360759806",
          "hgvs": "NM_001999.4:c.3456G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA360759808",
          "hgvs": "NM_001999.4:c.3456G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209775[alleleid]",
        "alleleId": 209775,
        "preferredName": "NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694632[alleleid]",
        "alleleId": 1694632,
        "preferredName": "NM_001999.4(FBN2):c.3456G>C (p.Met1152Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213309",
        "RCV": [
          "RCV000200568",
          "RCV002517176"
        ],
        "variationId": 213309
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1702244",
        "RCV": [
          "RCV002278033"
        ],
        "variationId": 1702244
      }
    ]
  },
  "type": "amino-acid"
}