{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138130",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481014[alleleid]",
        "alleleId": 1481014,
        "preferredName": "NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1432759",
        "RCV": [
          "RCV001959946",
          "RCV002458836"
        ],
        "variationId": 1432759
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98212193-G-C",
        "id": "9-98212193-G-C",
        "variant": "9:98212193 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98212193G>C?assembly=hg19",
        "id": "chr9:g.98212193G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95449911G>C?assembly=hg38",
        "id": "chr9:g.95449911G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147633236",
        "rs": 147633236
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98212193-G-C?dataset=gnomad_r2_1",
        "id": "9-98212193-G-C",
        "variant": "9:98212193 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95449911-G-C?dataset=gnomad_r4",
        "id": "9-95449911-G-C",
        "variant": "9:95449911 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95449911,
          "referenceAllele": "G",
          "start": 95449910
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95449911G>C",
        "CM000671.2:g.95449911G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98212193,
          "referenceAllele": "G",
          "start": 98212192
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98212193G>C",
        "CM000671.1:g.98212193G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97252014,
          "referenceAllele": "G",
          "start": 97252013
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97252014G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72055,
          "referenceAllele": "C",
          "start": 72054
        }
      ],
      "hgvs": [
        "NG_007664.1:g.72055C>G",
        "LRG_515:g.72055C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Thr1094Ser",
        "hgvsWellDefined": "ENSP00000518556.1:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3627,
          "referenceAllele": "C",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3476C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Thr1159Ser",
        "hgvsWellDefined": "ENSP00000389744.2:p.Thr1159Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3476C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3476C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Thr1159Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Thr1159Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.1159C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3302,
          "referenceAllele": "C",
          "start": 3301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1787C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1787C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Thr1009Ser",
        "hgvsWellDefined": "ENSP00000510238.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.826C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4384,
          "referenceAllele": "C",
          "start": 4383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Thr1160Ser",
        "hgvsWellDefined": "ENSP00000332353.6:p.Thr1160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3479C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3479C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Thr1160Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Thr1160Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "C",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Thr1160Ser",
        "hgvsWellDefined": "ENSP00000332353.6:p.Thr1160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3476C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Thr1159Ser",
        "hgvsWellDefined": "ENSP00000364423.2:p.Thr1159Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6785,
          "referenceAllele": "C",
          "start": 6784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.6785C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.6785C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Thr1009Ser",
        "hgvsWellDefined": "ENSP00000396135.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Thr1009Ser",
        "hgvsWellDefined": "ENSP00000399981.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3467,
          "referenceAllele": "C",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Thr1009Ser",
        "hgvsWellDefined": "ENSP00000414823.2:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3867,
          "referenceAllele": "C",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Thr1094Ser",
        "hgvsWellDefined": "ENSP00000410287.2:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3775,
          "referenceAllele": "C",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Thr1094Ser",
        "hgvsWellDefined": "ENSP00000389744.1:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.26C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166057",
      "coordinates": [
        {
          "allele": "G",
          "end": 3667,
          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3479C>G",
        "LRG_515t1:c.3479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1160Ser",
        "hgvsWellDefined": "NP_000255.2:p.Thr1160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490540",
      "coordinates": [
        {
          "allele": "G",
          "end": 3775,
          "referenceAllele": "C",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3281C>G",
        "LRG_515t2:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr1094Ser",
        "hgvsWellDefined": "NP_001077071.1:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497291",
      "coordinates": [
        {
          "allele": "G",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3476C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1159Ser",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1159Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504142",
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077073.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507932",
      "coordinates": [
        {
          "allele": "G",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077074.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510929",
      "coordinates": [
        {
          "allele": "G",
          "end": 3467,
          "referenceAllele": "C",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077075.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513673",
      "coordinates": [
        {
          "allele": "G",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077076.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Thr1009Ser",
        "hgvsWellDefined": "XP_005252159.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3523,
          "referenceAllele": "C",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3323C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Thr1108Ser",
        "hgvsWellDefined": "XP_011517170.1:p.Thr1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "C",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Thr1009Ser",
        "hgvsWellDefined": "XP_011517171.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Thr1009Ser",
        "hgvsWellDefined": "XP_011517172.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3149,
          "referenceAllele": "C",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Thr1009Ser",
        "hgvsWellDefined": "XP_011517173.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Thr1009Ser",
        "hgvsWellDefined": "XP_011517174.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2639C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Thr880Ser",
        "hgvsWellDefined": "XP_011517175.1:p.Thr880Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3649,
          "endIntronDirection": "-",
          "endIntronOffset": 587,
          "referenceAllele": "C",
          "start": 3649,
          "startIntronDirection": "-",
          "startIntronOffset": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3450-588C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:n.3450-588C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166057",
      "coordinates": [
        {
          "allele": "G",
          "end": 3667,
          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1160Ser",
        "hgvsWellDefined": "NP_000255.2:p.Thr1160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490540",
      "coordinates": [
        {
          "allele": "G",
          "end": 3867,
          "referenceAllele": "C",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr1094Ser",
        "hgvsWellDefined": "NP_001077071.1:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497291",
      "coordinates": [
        {
          "allele": "G",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3476C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1159Ser",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1159Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504142",
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077073.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507932",
      "coordinates": [
        {
          "allele": "G",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077074.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510929",
      "coordinates": [
        {
          "allele": "G",
          "end": 3467,
          "referenceAllele": "C",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077075.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513673",
      "coordinates": [
        {
          "allele": "G",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077076.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034614",
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "C",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3323C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Thr1108Ser",
        "hgvsWellDefined": "NP_001341847.1:p.Thr1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3501,
          "referenceAllele": "C",
          "start": 3500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3501C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166057",
      "coordinates": [
        {
          "allele": "G",
          "end": 4384,
          "referenceAllele": "C",
          "start": 4383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1160Ser",
        "hgvsWellDefined": "NP_000255.2:p.Thr1160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3479C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3479C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Thr1160Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Thr1160Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510929",
      "coordinates": [
        {
          "allele": "G",
          "end": 3477,
          "referenceAllele": "C",
          "start": 3476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077075.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034614",
      "coordinates": [
        {
          "allele": "G",
          "end": 4228,
          "referenceAllele": "C",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3323C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Thr1108Ser",
        "hgvsWellDefined": "NP_001341847.1:p.Thr1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4218,
          "referenceAllele": "C",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4218C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490540",
      "coordinates": [
        {
          "allele": "G",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr1094Ser",
        "hgvsWellDefined": "NP_001077071.1:p.Thr1094Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497291",
      "coordinates": [
        {
          "allele": "G",
          "end": 3627,
          "referenceAllele": "C",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3476C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1159Ser",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1159Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3476C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3476C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Thr1159Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Thr1159Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504142",
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077073.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507932",
      "coordinates": [
        {
          "allele": "G",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077074.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513673",
      "coordinates": [
        {
          "allele": "G",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3026C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr1009Ser",
        "hgvsWellDefined": "NP_001077076.1:p.Thr1009Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}