{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830004763",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 416,
          "referenceAllele": "M",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_075254.1:p.Met416Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355981494",
          "hgvs": "NM_022965.4:c.1248G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355981495",
          "hgvs": "NM_022965.4:c.1248G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355981496",
          "hgvs": "NM_022965.4:c.1248G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671999[alleleid]",
        "alleleId": 1671999,
        "preferredName": "NM_000142.5(FGFR3):c.1584G>C (p.Met528Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4850430[alleleid]",
        "alleleId": 4850430,
        "preferredName": "NM_000142.5(FGFR3):c.1584G>T (p.Met528Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1680088",
        "RCV": [
          "RCV002237272"
        ],
        "variationId": 1680088
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4747393",
        "RCV": [
          "RCV006537517"
        ],
        "variationId": 4747393
      }
    ]
  },
  "type": "amino-acid"
}