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        "hgvsWellDefined": "XP_024306545.1:p.Ala443Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008548",
      "geneNCBI_id": 5034,
      "geneSymbol": "P4HB",
      "hgvs": [
        "XR_002958014.1:n.1263G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573173211",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008548",
      "geneNCBI_id": 5034,
      "geneSymbol": "P4HB",
      "hgvs": [
        "NM_000918.4:c.1199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000909.2:p.Cys400Phe",
        "hgvsWellDefined": "NP_000909.2:p.Cys400Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662646",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331483.9:c.1199G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000918.4:c.1199G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327801.4:p.Cys400Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000909.2:p.Cys400Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}