{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573173211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008548",
      "geneNCBI_id": 5034,
      "geneSymbol": "P4HB",
      "hgvs": [
        "NP_000909.2:p.Cys400Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401506939",
          "hgvs": "NM_000918.4:c.1199G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580095355",
          "hgvs": "NM_000918.4:c.1199_1200delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147417"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1486348[alleleid]",
        "alleleId": 1486348,
        "preferredName": "NM_000918.4(P4HB):c.1199G>T (p.Cys400Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2401537[alleleid]",
        "alleleId": 2401537,
        "preferredName": "NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1379119",
        "RCV": [
          "RCV001891912"
        ],
        "variationId": 1379119
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2412808",
        "RCV": [
          "RCV003108241"
        ],
        "variationId": 2412808
      }
    ]
  },
  "type": "amino-acid"
}