{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380337332",
  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2057147[alleleid]",
        "alleleId": 2057147,
        "preferredName": "NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1997927",
        "RCV": [
          "RCV002792011"
        ],
        "variationId": 1997927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47470495G>A?assembly=hg19",
        "id": "chr11:g.47470495G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47448943G>A?assembly=hg38",
        "id": "chr11:g.47448943G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11556408",
        "rs": 11556408
      }
    ]
  },
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    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47448943,
          "referenceAllele": "G",
          "start": 47448942
        }
      ],
      "hgvs": [
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        "CM000673.2:g.47448943G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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          "end": 47470495,
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          "start": 47470494
        }
      ],
      "hgvs": [
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        "CM000673.1:g.47470495G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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          "end": 47427071,
          "referenceAllele": "G",
          "start": 47427070
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5236,
          "referenceAllele": "C",
          "start": 5235
        }
      ],
      "hgvs": [
        "NG_008312.1:g.5236C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001021"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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          "end": 194,
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          "start": 193
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744628",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.22C>T"
          }
        },
        "protein": {
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          }
        }
      }
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      "geneNCBI_id": 5913,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254641"
    },
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          "start": 200
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000298853.3:p.Gln9_Val353delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262876"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350638"
    },
    {
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        {
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        "hgvsWellDefined": "ENSP00000431732.1:p.Gln9_Ala353delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgTrpGlyLeuLeuGlyGlyTrpThrGlyValGlyArgIleSerSerGlyHisSerArgAlaGlnLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354737"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580484472",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039240"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060134"
    },
    {
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        {
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Gln8Ter",
        "hgvsWellDefined": "XP_005253100.1:p.Gln9_Val371delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520252.1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518554.1:p.Gln8Ter",
        "hgvsWellDefined": "XP_011518554.1:p.Gln9_Leu503delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysAlaCysProProThrLeuCysPheProValSerLysAlaCysGlnThrAlaLeuProAlaAlaLeuAlaTyrAlaHisLeuProGlySerGlyCysHisArgGluSerProGlySerGlyArgGlyGlyGlyGluGlnAlaGluProAlaGlnAlaAlaLeuSerGluArgGluHisLeuProGlnGlnArgAlaAlaAlaGlyThrAlaGlyAlaArgCysGluValProArgValArgGlyGlyAspGlyAlaLeuLeuArgProValArgArgValHisArgArgGluGluGlnProAlaAlaGlyProThrLeuLeuProHisLeuProProGlnValProAlaGluGlnArgAspProGluLeuSerGlnLeuProProLeuIleHisGluAlaTrpLeuCysMetThrProGlySerArgArgGlyLeuProProArgHisSerCysSerPheSerThrAlaArgGlnArgProIleTyrSerTrpGlySerCysGlnValValLeuThrIleAlaLysAlaLeuGlyProAlaGlnGlyCysSerProGlyProSerSerProProCysLeuPheValLeuCysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520253.1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518555.1:p.Gln8Ter",
        "hgvsWellDefined": "XP_011518555.1:p.Gln9_Val420delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysProTrpProMetLeuThrPheGlnAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.3:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:p.Gln8Ter",
        "hgvsWellDefined": "XP_005253099.1:p.Gln9_Val394delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.3:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Gln8Ter",
        "hgvsWellDefined": "XP_005253100.1:p.Gln9_Val371delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829575860",
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.5:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Gln8Ter",
        "hgvsWellDefined": "NP_005046.2:p.Gln9_Val412delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.22C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.22C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Gln8Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Gln8Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580484472",
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Gln8Ter",
        "hgvsWellDefined": "NP_116034.2:p.Gln9_Val353delinsIleGluLysGlyLeuGlnLeuTyrGlnSerAsnGlnThrGluLysAlaLeuGlnValTrpThrLysValLeuGluLysSerSerAspLeuMetGlyArgPheArgValLeuGlyCysLeuValThrAlaHisSerGluMetGlyArgTyrLysGluMetLeuLysPheAlaValValGlnIleAspThrAlaArgGluLeuGluAspAlaAspPheLeuLeuGluSerTyrLeuAsnLeuAlaArgSerAsnGluLysLeuCysGluPheHisLysThrIleSerTyrCysLysThrCysLeuGlyLeuProGlyThrArgAlaGlyAlaGlnLeuGlyGlyGlnValSerLeuSerMetGlyAsnAlaPheLeuGlyLeuSerValPheGlnLysAlaLeuGluSerPheGluLysAlaLeuArgTyrAlaHisAsnAsnAspAspAlaMetLeuGluCysArgValCysCysSerLeuGlySerPheTyrAlaGlnValLysAspTyrGluLysAlaLeuPhePheProCysLysAlaAlaGluLeuValAsnAsnTyrGlyLysGlyTrpSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}