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      "proteinEffect": {
        "hgvs": "NP_942559.1:p.Val605Phe",
        "hgvsWellDefined": "NP_942559.1:p.Val605Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000638394.2:c.1813G>T"
          },
          "RefSeq": {
            "hgvs": "NM_198859.4:c.1813G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492363.1:p.Val605Phe"
          },
          "RefSeq": {
            "hgvs": "NP_942559.1:p.Val605Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828436943",
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "G",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NM_001370528.1:c.1813G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357457.1:p.Val605Phe",
        "hgvsWellDefined": "NP_001357457.1:p.Val605Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692527"
    }
  ],
  "type": "nucleotide"
}