{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827938588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 541,
          "referenceAllele": "N",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001341739.1:p.Asn541Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341410",
          "hgvs": "NM_001354810.2:c.1623C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341412",
          "hgvs": "NM_001354810.2:c.1623C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31376[alleleid]",
        "alleleId": 31376,
        "preferredName": "NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31377[alleleid]",
        "alleleId": 31377,
        "preferredName": "NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16337",
        "RCV": [
          "RCV000017740",
          "RCV000255928",
          "RCV000353403",
          "RCV002273932",
          "RCV004541008"
        ],
        "variationId": 16337
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16338",
        "RCV": [
          "RCV000017741",
          "RCV000255372",
          "RCV000415460",
          "RCV000622950",
          "RCV000763122",
          "RCV001804740",
          "RCV001332222",
          "RCV002276553"
        ],
        "variationId": 16338
      }
    ]
  },
  "type": "amino-acid"
}