{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA405680931",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.13900G>T (p.Glu4634Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1454834[alleleid]",
        "alleleId": 1454834,
        "preferredName": "NM_000540.3(RYR1):c.13900G>T (p.Glu4634Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1456732",
        "RCV": [
          "RCV001951288"
        ],
        "variationId": 1456732
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39062812G>T?assembly=hg19",
        "id": "chr19:g.39062812G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38572172G>T?assembly=hg38",
        "id": "chr19:g.38572172G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192133",
        "rs": 118192133
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 38572172,
          "referenceAllele": "G",
          "start": 38572171
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38572172G>T",
        "CM000681.2:g.38572172G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 39062812,
          "referenceAllele": "G",
          "start": 39062811
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39062812G>T",
        "CM000681.1:g.39062812G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 43754652,
          "referenceAllele": "G",
          "start": 43754651
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43754652G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143473,
          "referenceAllele": "G",
          "start": 143472
        }
      ],
      "hgvs": [
        "NG_008866.1:g.143473G>T",
        "LRG_766:g.143473G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.836G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2233,
          "referenceAllele": "G",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.2233G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "G",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.2205G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14039,
          "referenceAllele": "G",
          "start": 14038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.13900G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu4634Ter",
        "hgvsWellDefined": "ENSP00000352608.2:p.Glu4635_Ser5038delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13900G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13900G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu4634Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu4634Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14016,
          "referenceAllele": "G",
          "start": 14015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.13885G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Glu4629Ter",
        "hgvsWellDefined": "ENSP00000347667.3:p.Glu4630_Ser5033delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13900,
          "referenceAllele": "G",
          "start": 13899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.13900G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu4634Ter",
        "hgvsWellDefined": "ENSP00000352608.2:p.Glu4635_Ser5038delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13989,
          "referenceAllele": "G",
          "start": 13988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.13882G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Glu4628Ter",
        "hgvsWellDefined": "ENSP00000354254.4:p.Glu4629_Ser5032delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.1:c.360G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169928",
      "coordinates": [
        {
          "allele": "T",
          "end": 14030,
          "referenceAllele": "G",
          "start": 14029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.13900G>T",
        "LRG_766t1:c.13900G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu4634Ter",
        "hgvsWellDefined": "NP_000531.2:p.Glu4635_Ser5038delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422686",
      "coordinates": [
        {
          "allele": "T",
          "end": 14015,
          "referenceAllele": "G",
          "start": 14014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.13885G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu4629Ter",
        "hgvsWellDefined": "NP_001036188.1:p.Glu4630_Ser5033delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13946,
          "referenceAllele": "G",
          "start": 13945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.13882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu4628Ter",
        "hgvsWellDefined": "XP_006723380.1:p.Glu4629_Ser5032delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13931,
          "referenceAllele": "G",
          "start": 13930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.13867G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu4623Ter",
        "hgvsWellDefined": "XP_006723382.1:p.Glu4624_Ser5027delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13961,
          "referenceAllele": "G",
          "start": 13960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.13897G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Glu4633Ter",
        "hgvsWellDefined": "XP_011525506.1:p.Glu4634_Ser5037delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13877,
          "referenceAllele": "G",
          "start": 13876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.13813G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu4605Ter",
        "hgvsWellDefined": "XP_011525507.1:p.Glu4606_Ser5009delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13962,
          "referenceAllele": "G",
          "start": 13961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.13882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu4628Ter",
        "hgvsWellDefined": "XP_006723380.1:p.Glu4629_Ser5032delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13947,
          "referenceAllele": "G",
          "start": 13946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.13867G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu4623Ter",
        "hgvsWellDefined": "XP_006723382.1:p.Glu4624_Ser5027delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13893,
          "referenceAllele": "G",
          "start": 13892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.13813G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu4605Ter",
        "hgvsWellDefined": "XP_011525507.1:p.Glu4606_Ser5009delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169928",
      "coordinates": [
        {
          "allele": "T",
          "end": 14039,
          "referenceAllele": "G",
          "start": 14038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.13900G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu4634Ter",
        "hgvsWellDefined": "NP_000531.2:p.Glu4635_Ser5038delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13900G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13900G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu4634Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu4634Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422686",
      "coordinates": [
        {
          "allele": "T",
          "end": 14024,
          "referenceAllele": "G",
          "start": 14023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.13885G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu4629Ter",
        "hgvsWellDefined": "NP_001036188.1:p.Glu4630_Ser5033delinsSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}