{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620076",
  "communityStandardTitle": [
    "NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4704537",
        "active": true,
        "id": "COSM4704537"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4704538",
        "active": true,
        "id": "COSM4704538"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409460[alleleid]",
        "alleleId": 409460,
        "preferredName": "NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421270",
        "RCV": [
          "RCV000485034",
          "RCV001184325"
        ],
        "variationId": 421270
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15832542G>A?assembly=hg19",
        "id": "chr16:g.15832542G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15738685G>A?assembly=hg38",
        "id": "chr16:g.15738685G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795023",
        "rs": 1064795023
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-15738685-G-A?dataset=gnomad_r4",
        "id": "16-15738685-G-A",
        "variant": "16:15738685 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 15738685,
          "referenceAllele": "G",
          "start": 15738684
        }
      ],
      "hgvs": [
        "NC_000016.10:g.15738685G>A",
        "CM000678.2:g.15738685G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 15832542,
          "referenceAllele": "G",
          "start": 15832541
        }
      ],
      "hgvs": [
        "NC_000016.9:g.15832542G>A",
        "CM000678.1:g.15832542G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 15740043,
          "referenceAllele": "G",
          "start": 15740042
        }
      ],
      "hgvs": [
        "NC_000016.8:g.15740043G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123346,
          "referenceAllele": "C",
          "start": 123345
        }
      ],
      "hgvs": [
        "NG_009299.1:g.123346C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "C",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.6:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Arg1001Ter",
        "hgvsWellDefined": "ENSP00000300036.5:p.Arg1001_Glu1972delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.3001C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.3001C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Arg1001Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Arg1001Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.7:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Arg1008Ter",
        "hgvsWellDefined": "ENSP00000407821.2:p.Arg1008_Gln1945delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.3022C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.3022C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Arg1008Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Arg1008Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.7:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Arg1001Ter",
        "hgvsWellDefined": "ENSP00000458731.1:p.Arg1001_Gln1938delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000652121.1:c.*1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498314.1:n.*1184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.5:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Arg1001Ter",
        "hgvsWellDefined": "ENSP00000300036.5:p.Arg1001_Glu1972delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000396324.7:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379616.3:p.Arg1008Ter",
        "hgvsWellDefined": "ENSP00000379616.3:p.Arg1008_Glu1979delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.6:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Arg1008Ter",
        "hgvsWellDefined": "ENSP00000407821.2:p.Arg1008_Gln1945delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.6:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Arg1001Ter",
        "hgvsWellDefined": "ENSP00000458731.1:p.Arg1001_Gln1938delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3129,
          "referenceAllele": "C",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000616439.4:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484924.1:p.Arg1008Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407868",
      "coordinates": [
        {
          "allele": "T",
          "end": 3129,
          "referenceAllele": "C",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.1:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Arg1008Ter",
        "hgvsWellDefined": "NP_001035202.1:p.Arg1008_Gln1945delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958608",
      "coordinates": [
        {
          "allele": "T",
          "end": 3129,
          "referenceAllele": "C",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.1:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Arg1008Ter",
        "hgvsWellDefined": "NP_001035203.1:p.Arg1008_Glu1979delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829396725",
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.2:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Arg1001Ter",
        "hgvsWellDefined": "NP_002465.1:p.Arg1001_Glu1972delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027776"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829996309",
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.2:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Arg1001Ter",
        "hgvsWellDefined": "NP_074035.1:p.Arg1001_Gln1938delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.1:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Arg1001Ter",
        "hgvsWellDefined": "XP_011520804.1:p.Arg1001_Arg1929delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.2:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Arg1001Ter",
        "hgvsWellDefined": "XP_011520804.1:p.Arg1001_Arg1929delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3093,
          "referenceAllele": "C",
          "start": 3092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_017023250.1:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878739.1:p.Arg1008Ter",
        "hgvsWellDefined": "XP_016878739.1:p.Arg1008_Gln1945delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829396725",
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "C",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.3:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Arg1001Ter",
        "hgvsWellDefined": "NP_002465.1:p.Arg1001_Glu1972delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.3001C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.3001C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Arg1001Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Arg1001Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407868",
      "coordinates": [
        {
          "allele": "T",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.2:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Arg1008Ter",
        "hgvsWellDefined": "NP_001035202.1:p.Arg1008_Gln1945delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.3022C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.3022C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Arg1008Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Arg1008Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958608",
      "coordinates": [
        {
          "allele": "T",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.2:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Arg1008Ter",
        "hgvsWellDefined": "NP_001035203.1:p.Arg1008_Glu1979delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829996309",
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "C",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.3:c.3001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Arg1001Ter",
        "hgvsWellDefined": "NP_074035.1:p.Arg1001_Gln1938delinsLysLeuLeuGluGluArgIleSerAspLeuThrThrAsnLeuAlaGluGluGluGluLysAlaLysAsnLeuThrLysLeuLysAsnLysHisGluSerMetIleSerGluLeuGluValArgLeuLysLysGluGluLysSerArgGlnGluLeuGluLysLeuLysArgLysLeuGluGlyAspAlaSerAspPheHisGluGlnIleAlaAspLeuGlnAlaGlnIleAlaGluLeuLysMetGlnLeuAlaLysLysGluGluGluLeuGlnAlaAlaLeuAlaArgLeuAspAspGluIleAlaGlnLysAsnAsnAlaLeuLysLysIleArgGluLeuGluGlyHisIleSerAspLeuGlnGluAspLeuAspSerGluArgAlaAlaArgAsnLysAlaGluLysGlnLysArgAspLeuGlyGluGluLeuGluAlaLeuLysThrGluLeuGluAspThrLeuAspSerThrAlaThrGlnGlnGluLeuArgAlaLysArgGluGlnGluValThrValLeuLysLysAlaLeuAspGluGluThrArgSerHisGluAlaGlnValGlnGluMetArgGlnLysHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728607"
    }
  ],
  "type": "nucleotide"
}