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  "communityStandardTitle": [
    "NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1227383",
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          "RCV003596547"
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      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Arg853Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Arg853_Tyr916delinsSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195462",
      "coordinates": [
        {
          "allele": "T",
          "end": 2622,
          "referenceAllele": "C",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.2557C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Arg853Ter",
        "hgvsWellDefined": "NP_006837.2:p.Arg853_Glu1064delinsSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.2557C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.2557C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Arg853Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Arg853Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}