{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232703",
  "communityStandardTitle": [
    "NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27486[alleleid]",
        "alleleId": 27486,
        "preferredName": "NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12447",
        "RCV": [
          "RCV000013260",
          "RCV000128708",
          "RCV000707046"
        ],
        "variationId": 12447
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-154140414-T-G",
        "id": "1-154140414-T-G",
        "variant": "1:154140414 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154140414T>G?assembly=hg19",
        "id": "chr1:g.154140414T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154167938T>G?assembly=hg38",
        "id": "chr1:g.154167938T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199474720",
        "rs": 199474720
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154140414-T-G?dataset=gnomad_r2_1",
        "id": "1-154140414-T-G",
        "variant": "1:154140414 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154167938-T-G?dataset=gnomad_r4",
        "id": "1-154167938-T-G",
        "variant": "1:154167938 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154167938,
          "referenceAllele": "T",
          "start": 154167937
        }
      ],
      "hgvs": [
        "NC_000001.11:g.154167938T>G",
        "CM000663.2:g.154167938T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154140414,
          "referenceAllele": "T",
          "start": 154140413
        }
      ],
      "hgvs": [
        "NC_000001.10:g.154140414T>G",
        "CM000663.1:g.154140414T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 152407038,
          "referenceAllele": "T",
          "start": 152407037
        }
      ],
      "hgvs": [
        "NC_000001.9:g.152407038T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29196,
          "referenceAllele": "A",
          "start": 29195
        }
      ],
      "hgvs": [
        "NG_008621.1:g.29196A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001130"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000611659.5:c.601+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480520.1:n.601+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000312970.13:n.631+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS745826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 748,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000323144.12:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357518.4:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 829,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000328159.9:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357520.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000341372.8:c.*380+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339378.4:n.*380+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 748,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000341485.10:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341653.6:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368530.7:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357516.3:p.Ter286Ser",
        "hgvsWellDefined": "ENSP00000357516.3:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368533.8:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357521.3:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000651641.1:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498577.1:p.Ter286Ser",
        "hgvsWellDefined": "ENSP00000498577.1:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651641.1:c.857A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152263.4:c.857A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498577.1:p.Ter286Ser"
          },
          "RefSeq": {
            "hgvs": "NP_689476.2:p.Ter286Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000651731.1:c.223+1367A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000651873.1:c.685+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 815,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000271850.11:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271850.7:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000302206.9:c.394+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307712.5:n.394+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000312970.12:n.554+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000323144.11:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357518.4:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000328159.8:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357520.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000330188.13:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339035.7:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000341372.7:c.589+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339378.3:n.589+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000341485.9:c.616+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341653.5:n.616+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368530.6:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357516.2:p.Ter286Ser",
        "hgvsWellDefined": "ENSP00000357516.2:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368531.6:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357517.2:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368533.7:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357521.3:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 782,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368545.7:n.782+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2678,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 2678,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000469717.5:n.2678+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 638,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000509409.5:c.*380+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426521.1:n.*380+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000513769.5:n.349+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 731,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000611659.4:c.601+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480520.1:n.601+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043351.1:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036816.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043352.1:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036817.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043353.1:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036818.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278188.1:c.466+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265117.1:n.466+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278189.1:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265118.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 731,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278190.1:c.601+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265119.1:n.601+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278191.1:c.394+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265120.1:n.394+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830292724",
      "coordinates": [
        {
          "allele": "C",
          "end": 974,
          "referenceAllele": "A",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_152263.3:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689476.2:p.Ter286Ser",
        "hgvsWellDefined": "NP_689476.2:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_153649.3:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_705935.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 790,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NR_103461.1:n.790+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 858,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711515.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711578.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711517.1:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711580.1:p.Ter286Ser",
        "hgvsWellDefined": "XP_006711580.1:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711518.1:c.854+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711581.1:n.854+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 858,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711519.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711582.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 858,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711520.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711583.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 858,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711521.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711584.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "A",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711522.2:c.746A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711585.1:p.Ter249Ser",
        "hgvsWellDefined": "XP_006711585.1:p.Ile248_Ter249insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509950.1:c.854+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508252.1:n.854+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509951.1:c.854+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508253.1:n.854+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 852,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509952.1:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508254.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 852,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509953.1:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508255.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001349679.1:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336608.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364679.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351608.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523914"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364680.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351609.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364681.1:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351610.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828152072",
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364682.1:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351611.1:p.Ter286Ser",
        "hgvsWellDefined": "NP_001351611.1:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828152164",
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "A",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364683.1:c.746A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351612.1:p.Ter249Ser",
        "hgvsWellDefined": "NP_001351612.1:p.Ile248_Ter249insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830292724",
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_152263.4:c.857A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689476.2:p.Ter286Ser",
        "hgvsWellDefined": "NP_689476.2:p.Ile285_Ter286insSerLeuSerProPheLeuLeuCysSerGlySerAlaProPheThrProArgGlyThrGlnGlyProThrLeuAlaLeuAspSerIleTrpValSerLeuAlaGlyProGlnGlyIleArgMetGlyGluGlnLysAlaThrTyrValPheSerSerThrProThrProAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651641.1:c.857A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152263.4:c.857A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498577.1:p.Ter286Ser"
          },
          "RefSeq": {
            "hgvs": "NP_689476.2:p.Ter286Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043351.2:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036816.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043352.2:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036817.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001043353.2:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036818.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 629,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278188.2:c.466+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265117.1:n.466+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 842,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278189.2:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265118.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278191.2:c.394+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265120.1:n.394+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "+",
          "endIntronOffset": 1367,
          "referenceAllele": "A",
          "start": 842,
          "startIntronDirection": "+",
          "startIntronOffset": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001349679.2:c.743+1367A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336608.1:n.743+1367A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364679.2:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351608.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364680.2:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351609.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 857,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364681.2:c.775+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351610.1:n.775+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_153649.4:c.664+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_705935.1:n.664+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NR_103461.2:n.759+2462A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 2462,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001278190.2:c.601+2462A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265119.1:n.601+2462A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715468"
    }
  ],
  "type": "nucleotide"
}