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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.4:c.151A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:p.Lys51Ter",
        "hgvsWellDefined": "NP_000930.1:p.Lys51_Glu267delinsProAspLeuSerAlaGluThrProMetPheProGlyAsnGlyAspGluGlnProLeuThrGluAsnProArgLysTyrValMetGlyHisPheArgTrpAspArgPheGlyArgArgAsnSerSerSerSerGlySerSerGlyAlaGlyGlnLysArgGluAspValSerAlaGlyGluAspCysGlyProLeuProGluGlyGlyProGluProArgSerAspGlyAlaLysProGlyProArgGluGlyLysArgSerTyrSerMetGluHisPheArgTrpGlyLysProValGlyLysLysArgArgProValLysValTyrProAsnGlyAlaGluAspGluSerAlaGluAlaPheProLeuGluPheLysArgGluLeuThrGlyGlnArgLeuArgGluGlyAspGlyProAspGlyProAlaAspAspGlyAlaGlyAlaGlnAlaAspLeuGluHisSerLeuLeuValAlaAlaGluLysLysAspGluGlyProTyrArgMetGluHisPheArgTrpGlySerProProLysAspLysArgTyrGlyGlyPheMetThrSerGluLysSerGlnThrProLeuValThrLeuPheLysAsnAlaIleIleLysAsnAlaTyrLysLysGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395826.7:c.151A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000939.4:c.151A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379170.2:p.Lys51Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000930.1:p.Lys51Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827034413",
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319204.2:c.151A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306133.1:p.Lys51Ter",
        "hgvsWellDefined": "NP_001306133.1:p.Lys51_Glu267delinsProAspLeuSerAlaGluThrProMetPheProGlyAsnGlyAspGluGlnProLeuThrGluAsnProArgLysTyrValMetGlyHisPheArgTrpAspArgPheGlyArgArgAsnSerSerSerSerGlySerSerGlyAlaGlyGlnLysArgGluAspValSerAlaGlyGluAspCysGlyProLeuProGluGlyGlyProGluProArgSerAspGlyAlaLysProGlyProArgGluGlyLysArgSerTyrSerMetGluHisPheArgTrpGlyLysProValGlyLysLysArgArgProValLysValTyrProAsnGlyAlaGluAspGluSerAlaGluAlaPheProLeuGluPheLysArgGluLeuThrGlyGlnArgLeuArgGluGlyAspGlyProAspGlyProAlaAspAspGlyAlaGlyAlaGlnAlaAspLeuGluHisSerLeuLeuValAlaAlaGluLysLysAspGluGlyProTyrArgMetGluHisPheArgTrpGlySerProProLysAspLysArgTyrGlyGlyPheMetThrSerGluLysSerGlnThrProLeuValThrLeuPheLysAsnAlaIleIleLysAsnAlaTyrLysLysGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024286",
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "A",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319205.2:c.151A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306134.1:p.Lys51Ter",
        "hgvsWellDefined": "NP_001306134.1:p.Lys51_Glu267delinsProAspLeuSerAlaGluThrProMetPheProGlyAsnGlyAspGluGlnProLeuThrGluAsnProArgLysTyrValMetGlyHisPheArgTrpAspArgPheGlyArgArgAsnSerSerSerSerGlySerSerGlyAlaGlyGlnLysArgGluAspValSerAlaGlyGluAspCysGlyProLeuProGluGlyGlyProGluProArgSerAspGlyAlaLysProGlyProArgGluGlyLysArgSerTyrSerMetGluHisPheArgTrpGlyLysProValGlyLysLysArgArgProValLysValTyrProAsnGlyAlaGluAspGluSerAlaGluAlaPheProLeuGluPheLysArgGluLeuThrGlyGlnArgLeuArgGluGlyAspGlyProAspGlyProAlaAspAspGlyAlaGlyAlaGlnAlaAspLeuGluHisSerLeuLeuValAlaAlaGluLysLysAspGluGlyProTyrArgMetGluHisPheArgTrpGlySerProProLysAspLysArgTyrGlyGlyPheMetThrSerGluLysSerGlnThrProLeuValThrLeuPheLysAsnAlaIleIleLysAsnAlaTyrLysLysGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256773",
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.3:c.151A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:p.Lys51Ter",
        "hgvsWellDefined": "NP_001030333.1:p.Lys51_Glu267delinsProAspLeuSerAlaGluThrProMetPheProGlyAsnGlyAspGluGlnProLeuThrGluAsnProArgLysTyrValMetGlyHisPheArgTrpAspArgPheGlyArgArgAsnSerSerSerSerGlySerSerGlyAlaGlyGlnLysArgGluAspValSerAlaGlyGluAspCysGlyProLeuProGluGlyGlyProGluProArgSerAspGlyAlaLysProGlyProArgGluGlyLysArgSerTyrSerMetGluHisPheArgTrpGlyLysProValGlyLysLysArgArgProValLysValTyrProAsnGlyAlaGluAspGluSerAlaGluAlaPheProLeuGluPheLysArgGluLeuThrGlyGlnArgLeuArgGluGlyAspGlyProAspGlyProAlaAspAspGlyAlaGlyAlaGlnAlaAspLeuGluHisSerLeuLeuValAlaAlaGluLysLysAspGluGlyProTyrArgMetGluHisPheArgTrpGlySerProProLysAspLysArgTyrGlyGlyPheMetThrSerGluLysSerGlnThrProLeuValThrLeuPheLysAsnAlaIleIleLysAsnAlaTyrLysLysGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711559"
    }
  ],
  "type": "nucleotide"
}