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          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_946603.3:n.675C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117075",
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "NM_015627.3:c.605C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056442.2:p.Ser202Tyr",
        "hgvsWellDefined": "NP_056442.2:p.Ser202Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374338.5:c.605C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015627.3:c.605C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363458.4:p.Ser202Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_056442.2:p.Ser202Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}