{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349439908",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=881743[alleleid]",
        "alleleId": 881743,
        "preferredName": "NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/894079",
        "RCV": [
          "RCV001133713",
          "RCV001133714",
          "RCV001133715",
          "RCV001133716",
          "RCV001135207"
        ],
        "variationId": 894079
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179407095C>T?assembly=hg19",
        "id": "chr2:g.179407095C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178542368C>T?assembly=hg38",
        "id": "chr2:g.178542368C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1257117887",
        "rs": 1257117887
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-179407095-C-T?dataset=gnomad_r2_1",
        "id": "2-179407095-C-T",
        "variant": "2:179407095 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-178542368-C-T?dataset=gnomad_r4",
        "id": "2-178542368-C-T",
        "variant": "2:178542368 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 178542368,
          "referenceAllele": "C",
          "start": 178542367
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178542368C>T",
        "CM000664.2:g.178542368C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179407095,
          "referenceAllele": "C",
          "start": 179407094
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179407095C>T",
        "CM000664.1:g.179407095C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179115341,
          "referenceAllele": "C",
          "start": 179115340
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179115341C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293435,
          "referenceAllele": "G",
          "start": 293434
        }
      ],
      "hgvs": [
        "NG_011618.3:g.293435G>A",
        "LRG_391:g.293435G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24542,
          "referenceAllele": "C",
          "start": 24541
        }
      ],
      "hgvs": [
        "NG_051363.1:g.24542C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89909,
          "referenceAllele": "G",
          "start": 89908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.89684G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Arg29895Lys",
        "hgvsWellDefined": "ENSP00000343764.6:p.Arg29895Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70769,
          "referenceAllele": "G",
          "start": 70768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.70769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Arg23590Lys",
        "hgvsWellDefined": "ENSP00000340554.6:p.Arg23590Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70568,
          "referenceAllele": "G",
          "start": 70567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.70568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Arg23523Lys",
        "hgvsWellDefined": "ENSP00000352154.5:p.Arg23523Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70994,
          "referenceAllele": "G",
          "start": 70993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.70769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Arg23590Lys",
        "hgvsWellDefined": "ENSP00000340554.6:p.Arg23590Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89907,
          "referenceAllele": "G",
          "start": 89906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.89684G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Arg29895Lys",
        "hgvsWellDefined": "ENSP00000343764.6:p.Arg29895Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70793,
          "referenceAllele": "G",
          "start": 70792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.70568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Arg23523Lys",
        "hgvsWellDefined": "ENSP00000352154.5:p.Arg23523Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70418,
          "referenceAllele": "G",
          "start": 70417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.70193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Arg23398Lys",
        "hgvsWellDefined": "ENSP00000434586.1:p.Arg23398Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97613,
          "referenceAllele": "G",
          "start": 97612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.97388G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Arg32463Lys",
        "hgvsWellDefined": "ENSP00000467141.1:p.Arg32463Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.97388G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.97388G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Arg32463Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Arg32463Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92690,
          "referenceAllele": "G",
          "start": 92689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.92465G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Arg30822Lys",
        "hgvsWellDefined": "ENSP00000465570.1:p.Arg30822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92690,
          "referenceAllele": "G",
          "start": 92689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.92465G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Arg30822Lys",
        "hgvsWellDefined": "ENSP00000483597.1:p.Arg30822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826426551",
      "coordinates": [
        {
          "allele": "A",
          "end": 92690,
          "referenceAllele": "G",
          "start": 92689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.92465G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Arg30822Lys",
        "hgvsWellDefined": "NP_001243779.1:p.Arg30822Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692596",
      "coordinates": [
        {
          "allele": "A",
          "end": 97613,
          "referenceAllele": "G",
          "start": 97612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.97388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Arg32463Lys",
        "hgvsWellDefined": "NP_001254479.2:p.Arg32463Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.97388G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.97388G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Arg32463Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Arg32463Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829443267",
      "coordinates": [
        {
          "allele": "A",
          "end": 70418,
          "referenceAllele": "G",
          "start": 70417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.70193G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Arg23398Lys",
        "hgvsWellDefined": "NP_003310.4:p.Arg23398Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830202541",
      "coordinates": [
        {
          "allele": "A",
          "end": 89909,
          "referenceAllele": "G",
          "start": 89908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.89684G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Arg29895Lys",
        "hgvsWellDefined": "NP_596869.4:p.Arg29895Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830224551",
      "coordinates": [
        {
          "allele": "A",
          "end": 70793,
          "referenceAllele": "G",
          "start": 70792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.70568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Arg23523Lys",
        "hgvsWellDefined": "NP_597676.3:p.Arg23523Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830240883",
      "coordinates": [
        {
          "allele": "A",
          "end": 70994,
          "referenceAllele": "G",
          "start": 70993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.70769G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Arg23590Lys",
        "hgvsWellDefined": "NP_597681.4:p.Arg23590Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 18732,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 18731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.446+18732C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2043+7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96881,
          "referenceAllele": "G",
          "start": 96880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.96485G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Arg32162Lys",
        "hgvsWellDefined": "XP_011510031.1:p.Arg32162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70775,
          "referenceAllele": "G",
          "start": 70774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.70379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Arg23460Lys",
        "hgvsWellDefined": "XP_011510032.1:p.Arg23460Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70634,
          "referenceAllele": "G",
          "start": 70633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.70238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Arg23413Lys",
        "hgvsWellDefined": "XP_011510033.1:p.Arg23413Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96506,
          "referenceAllele": "G",
          "start": 96505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.96281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Arg32094Lys",
        "hgvsWellDefined": "XP_016860308.1:p.Arg32094Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91904,
          "referenceAllele": "G",
          "start": 91903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.91679G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Arg30560Lys",
        "hgvsWellDefined": "XP_016860309.1:p.Arg30560Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91901,
          "referenceAllele": "G",
          "start": 91900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.91676G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Arg30559Lys",
        "hgvsWellDefined": "XP_016860310.1:p.Arg30559Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88943,
          "referenceAllele": "G",
          "start": 88942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.88718G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Arg29573Lys",
        "hgvsWellDefined": "XP_016860311.1:p.Arg29573Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70559,
          "referenceAllele": "G",
          "start": 70558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.70334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Arg23445Lys",
        "hgvsWellDefined": "XP_016860312.1:p.Arg23445Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92054,
          "referenceAllele": "G",
          "start": 92053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.91829G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Arg30610Lys",
        "hgvsWellDefined": "XP_024308862.1:p.Arg30610Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92051,
          "referenceAllele": "G",
          "start": 92050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.91826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Arg30609Lys",
        "hgvsWellDefined": "XP_024308863.1:p.Arg30609Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91484,
          "referenceAllele": "G",
          "start": 91483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.91259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Arg30420Lys",
        "hgvsWellDefined": "XP_024308864.1:p.Arg30420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88826,
          "referenceAllele": "G",
          "start": 88825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.88601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Arg29534Lys",
        "hgvsWellDefined": "XP_024308865.1:p.Arg29534Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88745,
          "referenceAllele": "G",
          "start": 88744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.88520G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Arg29507Lys",
        "hgvsWellDefined": "XP_024308866.1:p.Arg29507Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70508,
          "referenceAllele": "G",
          "start": 70507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.70283G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Arg23428Lys",
        "hgvsWellDefined": "XP_024308867.1:p.Arg23428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60163,
          "referenceAllele": "G",
          "start": 60162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.60137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Arg20046Lys",
        "hgvsWellDefined": "XP_024308868.1:p.Arg20046Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}