{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394853599",
  "communityStandardTitle": [
    "NM_002474.3(MYH11):c.4735G>C (p.Asp1579His)",
    "NM_017668.3(NDE1):c.948-3296C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3233971[alleleid]",
        "alleleId": 3233971,
        "preferredName": "NM_002474.3(MYH11):c.4735G>C (p.Asp1579His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3071706",
        "RCV": [
          "RCV004016200"
        ],
        "variationId": 3071706
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15814752C>G?assembly=hg19",
        "id": "chr16:g.15814752C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15720895C>G?assembly=hg38",
        "id": "chr16:g.15720895C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369751362",
        "rs": 369751362
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 15720895,
          "referenceAllele": "C",
          "start": 15720894
        }
      ],
      "hgvs": [
        "NC_000016.10:g.15720895C>G",
        "CM000678.2:g.15720895C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 15814752,
          "referenceAllele": "C",
          "start": 15814751
        }
      ],
      "hgvs": [
        "NC_000016.9:g.15814752C>G",
        "CM000678.1:g.15814752C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 15722253,
          "referenceAllele": "C",
          "start": 15722252
        }
      ],
      "hgvs": [
        "NC_000016.8:g.15722253C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141136,
          "referenceAllele": "G",
          "start": 141135
        }
      ],
      "hgvs": [
        "NG_009299.1:g.141136G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82629,
          "referenceAllele": "C",
          "start": 82628
        }
      ],
      "hgvs": [
        "NG_021210.1:g.82629C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4840,
          "referenceAllele": "G",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.6:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Asp1579His",
        "hgvsWellDefined": "ENSP00000300036.5:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.4735G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.4735G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Asp1579His"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Asp1579His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000396354.6:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379642.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396354.6:c.948-3296C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017668.3:c.948-3296C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379642.1:n.948-3296C>G"
          },
          "RefSeq": {
            "hgvs": "NP_060138.1:n.948-3296C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4861,
          "referenceAllele": "G",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.7:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Asp1586His",
        "hgvsWellDefined": "ENSP00000407821.2:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.4756G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.4756G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Asp1586His"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Asp1586His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000572756.6:c.796-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460436.2:n.796-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576164.6:n.908G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4806,
          "referenceAllele": "G",
          "start": 4805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.7:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Asp1579His",
        "hgvsWellDefined": "ENSP00000458731.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1030,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000577101.6:c.1031-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461729.2:n.1031-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4930,
          "referenceAllele": "G",
          "start": 4929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000652121.1:c.*2918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498314.1:n.*2918G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 905,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674538.1:c.796-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501547.1:n.796-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1138,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674554.1:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502635.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 930,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674581.1:c.*7-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502100.1:n.*7-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 905,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674588.1:c.796-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502802.1:n.796-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1307,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674888.1:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501936.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674900.1:c.*349-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502662.1:n.*349-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 870,
          "endIntronDirection": "-",
          "endIntronOffset": 3379,
          "referenceAllele": "C",
          "start": 870,
          "startIntronDirection": "-",
          "startIntronOffset": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000674995.1:c.796-3380C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502414.1:n.796-3380C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1159,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000675171.1:c.*700-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501812.1:n.*700-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1158,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000675926.1:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502354.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1073,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000675951.1:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502160.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.5:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Asp1579His",
        "hgvsWellDefined": "ENSP00000300036.5:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1003,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1003,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000342673.9:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345892.5:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4844,
          "referenceAllele": "G",
          "start": 4843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000396324.7:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379616.3:p.Asp1586His",
        "hgvsWellDefined": "ENSP00000379616.3:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1058,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1058,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000396354.5:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379642.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1773,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000396355.5:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379643.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4844,
          "referenceAllele": "G",
          "start": 4843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.6:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Asp1586His",
        "hgvsWellDefined": "ENSP00000407821.2:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000571275.1:n.1023G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000572967.1:c.453-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459918.1:n.453-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "ENST00000573694.5:c.380-3296C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576164.5:n.908G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.6:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Asp1579His",
        "hgvsWellDefined": "ENSP00000458731.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4863,
          "referenceAllele": "G",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000616439.4:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484924.1:p.Asp1586His",
        "hgvsWellDefined": "ENSP00000484924.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825393285",
      "coordinates": [
        {
          "allele": "C",
          "end": 4863,
          "referenceAllele": "G",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.1:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Asp1586His",
        "hgvsWellDefined": "NP_001035202.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825350228",
      "coordinates": [
        {
          "allele": "C",
          "end": 4863,
          "referenceAllele": "G",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.1:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Asp1586His",
        "hgvsWellDefined": "NP_001035203.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1773,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "NM_001143979.1:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137451.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829398295",
      "coordinates": [
        {
          "allele": "C",
          "end": 4842,
          "referenceAllele": "G",
          "start": 4841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.2:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Asp1579His",
        "hgvsWellDefined": "NP_002465.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "NM_017668.2:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060138.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997759",
      "coordinates": [
        {
          "allele": "C",
          "end": 4842,
          "referenceAllele": "G",
          "start": 4841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.2:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Asp1579His",
        "hgvsWellDefined": "NP_074035.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.1:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Asp1579His",
        "hgvsWellDefined": "XP_011520804.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4844,
          "referenceAllele": "G",
          "start": 4843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.2:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Asp1579His",
        "hgvsWellDefined": "XP_011520804.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4827,
          "referenceAllele": "G",
          "start": 4826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_017023250.1:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878739.1:p.Asp1586His",
        "hgvsWellDefined": "XP_016878739.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829398295",
      "coordinates": [
        {
          "allele": "C",
          "end": 4840,
          "referenceAllele": "G",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.3:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Asp1579His",
        "hgvsWellDefined": "NP_002465.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.4735G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.4735G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Asp1579His"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Asp1579His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "NM_017668.3:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060138.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396354.6:c.948-3296C>G"
          },
          "RefSeq": {
            "hgvs": "NM_017668.3:c.948-3296C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379642.1:n.948-3296C>G"
          },
          "RefSeq": {
            "hgvs": "NP_060138.1:n.948-3296C>G"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825393285",
      "coordinates": [
        {
          "allele": "C",
          "end": 4861,
          "referenceAllele": "G",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.2:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Asp1586His",
        "hgvsWellDefined": "NP_001035202.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.4756G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.4756G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Asp1586His"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Asp1586His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "endIntronDirection": "-",
          "endIntronOffset": 3295,
          "referenceAllele": "C",
          "start": 1658,
          "startIntronDirection": "-",
          "startIntronOffset": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017619",
      "geneNCBI_id": 54820,
      "geneSymbol": "NDE1",
      "hgvs": [
        "NM_001143979.2:c.948-3296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137451.1:n.948-3296C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825350228",
      "coordinates": [
        {
          "allele": "C",
          "end": 4861,
          "referenceAllele": "G",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.2:c.4756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Asp1586His",
        "hgvsWellDefined": "NP_001035203.1:p.Asp1586His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997759",
      "coordinates": [
        {
          "allele": "C",
          "end": 4840,
          "referenceAllele": "G",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.3:c.4735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Asp1579His",
        "hgvsWellDefined": "NP_074035.1:p.Asp1579His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728607"
    }
  ],
  "type": "nucleotide"
}