{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573145256",
  "communityStandardTitle": [
    "NM_032578.4(MYPN):c.1131-19T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1535530[alleleid]",
        "alleleId": 1535530,
        "preferredName": "NM_032578.4(MYPN):c.1131-19T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1611902",
        "RCV": [
          "RCV002166131"
        ],
        "variationId": 1611902
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2134089256",
        "rs": 2134089256
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-68148334-T-C?dataset=gnomad_r4",
        "id": "10-68148334-T-C",
        "variant": "10:68148334 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 68148334,
          "referenceAllele": "T",
          "start": 68148333
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68148334T>C",
        "CM000672.2:g.68148334T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 69908091,
          "referenceAllele": "T",
          "start": 69908090
        }
      ],
      "hgvs": [
        "NC_000010.10:g.69908091T>C",
        "CM000672.1:g.69908091T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 69578097,
          "referenceAllele": "T",
          "start": 69578096
        }
      ],
      "hgvs": [
        "NC_000010.9:g.69578097T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47218,
          "referenceAllele": "T",
          "start": 47217
        }
      ],
      "hgvs": [
        "NG_032118.1:g.47218T>C",
        "LRG_410:g.47218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 555,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.7:c.306-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:n.306-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1294,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000373675.4:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362779.4:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1185,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.6:c.1185-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.3:n.1185-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.5:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.2:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000685006.1:c.1203-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510318.1:n.1203-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1367,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000685060.1:n.1368-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1227,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000685154.1:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509251.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 341,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000686289.1:n.342-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000687572.1:c.9-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510427.1:n.9-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000687705.1:c.*1380-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509639.1:n.*1380-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000688812.1:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510658.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000689218.1:n.1360-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000689484.1:c.9-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509884.1:n.9-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000689797.1:c.9-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510689.1:n.9-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1488,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1488,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000690544.1:c.*402-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508989.1:n.*402-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000692953.1:n.291-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1261,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000692979.1:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509849.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 1705,
          "referenceAllele": "T",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000693699.1:c.229-1706T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1367,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.10:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.1131-19T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.1131-19T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:n.1131-19T>C"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:n.1131-19T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 519,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 519,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000354393.6:c.306-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346369.2:n.306-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000358913.9:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351790.5:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000373675.3:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362779.3:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1317,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000540630.5:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441668.2:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1726,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1726,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "ENST00000613327.4:c.249-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480757.1:n.249-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1317,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.1:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1726,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1726,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.1:c.249-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:n.249-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1422,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.3:c.1131-19T>C",
        "LRG_410t1:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.3:n.558-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1422,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.3:n.1423-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1406,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_006718043.2:c.1185-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718106.1:n.1185-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1185,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_011540292.1:c.1185-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538594.1:n.1185-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1758,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1758,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016833.1:c.1209-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872322.1:n.1209-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1217,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_017016834.2:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872323.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "XM_024448236.1:c.9-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304004.1:n.9-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 1615,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 1616
        }
      ],
      "hgvs": [
        "XR_001747479.1:n.455-1616A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045662.4:n.668-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1367,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NR_045663.4:n.1368-19T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1427,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1427,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256267.2:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243196.1:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1671,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1671,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_001256268.2:c.249-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243197.1:n.249-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "T",
          "start": 1367,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NM_032578.4:c.1131-19T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115967.2:n.1131-19T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358913.10:c.1131-19T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032578.4:c.1131-19T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351790.5:n.1131-19T>C"
          },
          "RefSeq": {
            "hgvs": "NP_115967.2:n.1131-19T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}