{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127436",
  "communityStandardTitle": [
    "NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32842[alleleid]",
        "alleleId": 32842,
        "preferredName": "NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17803",
        "RCV": [
          "RCV000019381"
        ],
        "variationId": 17803
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28912162C>A?assembly=hg19",
        "id": "chr16:g.28912162C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28900841C>A?assembly=hg38",
        "id": "chr16:g.28900841C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918114",
        "rs": 121918114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28912162-C-A?dataset=gnomad_r2_1",
        "id": "16-28912162-C-A",
        "variant": "16:28912162 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28900841-C-A?dataset=gnomad_r4",
        "id": "16-28900841-C-A",
        "variant": "16:28900841 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28900841,
          "referenceAllele": "C",
          "start": 28900840
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28900841C>A",
        "CM000678.2:g.28900841C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28912162,
          "referenceAllele": "C",
          "start": 28912161
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28912162C>A",
        "CM000678.1:g.28912162C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28819663,
          "referenceAllele": "C",
          "start": 28819662
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28819663C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27354,
          "referenceAllele": "C",
          "start": 27353
        }
      ],
      "hgvs": [
        "NG_023327.1:g.27354C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003800"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "ENST00000395503.9:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378879.5:p.Cys675Ter",
        "hgvsWellDefined": "ENSP00000378879.5:p.Cys675_Gly994delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395503.9:c.2025C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004320.6:c.2025C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378879.5:p.Cys675Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004311.1:p.Cys675Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "ENST00000357084.7:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349595.3:p.Cys675Ter",
        "hgvsWellDefined": "ENSP00000349595.3:p.Cys675_Lys1001delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluAspProGluAspGluArgArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "ENST00000395503.8:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378879.4:p.Cys675Ter",
        "hgvsWellDefined": "ENSP00000378879.4:p.Cys675_Gly994delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "ENST00000536376.5:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443101.1:p.Cys550Ter",
        "hgvsWellDefined": "ENSP00000443101.1:p.Cys550_Gly869delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826703022",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_001286075.1:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273004.1:p.Cys550Ter",
        "hgvsWellDefined": "NP_001273004.1:p.Cys550_Gly869delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127437",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_004320.4:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004311.1:p.Cys675Ter",
        "hgvsWellDefined": "NP_004311.1:p.Cys675_Gly994delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916066378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_173201.3:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775293.1:p.Cys675Ter",
        "hgvsWellDefined": "NP_775293.1:p.Cys675_Lys1001delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluAspProGluAspGluArgArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127437",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_004320.6:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004311.1:p.Cys675Ter",
        "hgvsWellDefined": "NP_004311.1:p.Cys675_Gly994delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696104",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395503.9:c.2025C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004320.6:c.2025C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378879.5:p.Cys675Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004311.1:p.Cys675Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916066378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_173201.4:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775293.1:p.Cys675Ter",
        "hgvsWellDefined": "NP_775293.1:p.Cys675_Lys1001delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluAspProGluAspGluArgArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826703022",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_001286075.2:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273004.1:p.Cys550Ter",
        "hgvsWellDefined": "NP_001273004.1:p.Cys550_Gly869delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916066378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000811",
      "geneNCBI_id": 487,
      "geneSymbol": "ATP2A1",
      "hgvs": [
        "NM_173201.5:c.2025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775293.1:p.Cys675Ter",
        "hgvsWellDefined": "NP_775293.1:p.Cys675_Lys1001delinsPheAlaArgValGluProSerHisLysSerLysIleValGluTyrLeuGlnSerTyrAspGluIleThrAlaMetThrGlyAspGlyValAsnAspAlaProAlaLeuLysLysAlaGluIleGlyIleAlaMetGlySerGlyThrAlaValAlaLysThrAlaSerGluMetValLeuAlaAspAspAsnPheSerThrIleValAlaAlaValGluGluGlyArgAlaIleTyrAsnAsnMetLysGlnPheIleArgTyrLeuIleSerSerAsnValGlyGluValValCysIlePheLeuThrAlaAlaLeuGlyLeuProGluAlaLeuIleProValGlnLeuLeuTrpValAsnLeuValThrAspGlyLeuProAlaThrAlaLeuGlyPheAsnProProAspLeuAspIleMetAspArgProProArgSerProLysGluProLeuIleSerGlyTrpLeuPhePheArgTyrMetAlaIleGlyGlyTyrValGlyAlaAlaThrValGlyAlaAlaAlaTrpTrpPheLeuTyrAlaGluAspGlyProHisValAsnTyrSerGlnLeuThrHisPheMetGlnCysThrGluAspAsnThrHisPheGluGlyIleAspCysGluValPheGluAlaProGluProMetThrMetAlaLeuSerValLeuValThrIleGluMetCysAsnAlaLeuAsnSerLeuSerGluAsnGlnSerLeuLeuArgMetProProTrpValAsnIleTrpLeuLeuGlySerIleCysLeuSerMetSerLeuHisPheLeuIleLeuTyrValAspProLeuProMetIlePheLysLeuArgAlaLeuAspLeuThrGlnTrpLeuMetValLeuLysIleSerLeuProValIleGlyLeuAspGluIleLeuLysPheValAlaArgAsnTyrLeuGluAspProGluAspGluArgArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729568"
    }
  ],
  "type": "nucleotide"
}