{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138012",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809530[alleleid]",
        "alleleId": 809530,
        "preferredName": "NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824368",
        "RCV": [
          "RCV001021407",
          "RCV001861021"
        ],
        "variationId": 824368
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98209633-G-A",
        "id": "9-98209633-G-A",
        "variant": "9:98209633 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209633G>A?assembly=hg19",
        "id": "chr9:g.98209633G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447351G>A?assembly=hg38",
        "id": "chr9:g.95447351G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780042369",
        "rs": 780042369
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98209633-G-A?dataset=gnomad_r2_1",
        "id": "9-98209633-G-A",
        "variant": "9:98209633 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447351-G-A?dataset=gnomad_r3",
        "id": "9-95447351-G-A",
        "variant": "9:95447351 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447351-G-A?dataset=gnomad_r4",
        "id": "9-95447351-G-A",
        "variant": "9:95447351 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95447351,
          "referenceAllele": "G",
          "start": 95447350
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447351G>A",
        "CM000671.2:g.95447351G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98209633,
          "referenceAllele": "G",
          "start": 98209632
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209633G>A",
        "CM000671.1:g.98209633G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97249454,
          "referenceAllele": "G",
          "start": 97249453
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249454G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74615,
          "referenceAllele": "C",
          "start": 74614
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74615C>T",
        "LRG_515:g.74615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "C",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Pro1236Leu",
        "hgvsWellDefined": "ENSP00000518556.1:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4053,
          "referenceAllele": "C",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Pro1301Leu",
        "hgvsWellDefined": "ENSP00000389744.2:p.Pro1301Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3902C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3902C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro1301Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro1301Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3728,
          "referenceAllele": "C",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2213C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3593,
          "referenceAllele": "C",
          "start": 3592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Pro1151Leu",
        "hgvsWellDefined": "ENSP00000510238.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1252C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4810,
          "referenceAllele": "C",
          "start": 4809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro1302Leu",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro1302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3905C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3905C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro1302Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro1302Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4205,
          "referenceAllele": "C",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro1302Leu",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro1302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4047,
          "referenceAllele": "C",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Pro1301Leu",
        "hgvsWellDefined": "ENSP00000364423.2:p.Pro1301Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7211,
          "referenceAllele": "C",
          "start": 7210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Pro1151Leu",
        "hgvsWellDefined": "ENSP00000396135.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "C",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Pro1151Leu",
        "hgvsWellDefined": "ENSP00000399981.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3893,
          "referenceAllele": "C",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Pro1151Leu",
        "hgvsWellDefined": "ENSP00000414823.2:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4293,
          "referenceAllele": "C",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Pro1236Leu",
        "hgvsWellDefined": "ENSP00000410287.2:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4201,
          "referenceAllele": "C",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Pro1236Leu",
        "hgvsWellDefined": "ENSP00000389744.1:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.969C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958400",
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3905C>T",
        "LRG_515t1:c.3905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro1302Leu",
        "hgvsWellDefined": "NP_000255.2:p.Pro1302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490975",
      "coordinates": [
        {
          "allele": "T",
          "end": 4201,
          "referenceAllele": "C",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3707C>T",
        "LRG_515t2:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro1236Leu",
        "hgvsWellDefined": "NP_001077071.1:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498138",
      "coordinates": [
        {
          "allele": "T",
          "end": 4047,
          "referenceAllele": "C",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro1301Leu",
        "hgvsWellDefined": "NP_001077072.1:p.Pro1301Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504882",
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "C",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077073.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508292",
      "coordinates": [
        {
          "allele": "T",
          "end": 3794,
          "referenceAllele": "C",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077074.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511288",
      "coordinates": [
        {
          "allele": "T",
          "end": 3893,
          "referenceAllele": "C",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077075.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514033",
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077076.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Pro1151Leu",
        "hgvsWellDefined": "XP_005252159.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3949,
          "referenceAllele": "C",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3749C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Pro1250Leu",
        "hgvsWellDefined": "XP_011517170.1:p.Pro1250Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3600,
          "referenceAllele": "C",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Pro1151Leu",
        "hgvsWellDefined": "XP_011517171.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "C",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Pro1151Leu",
        "hgvsWellDefined": "XP_011517172.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3575,
          "referenceAllele": "C",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Pro1151Leu",
        "hgvsWellDefined": "XP_011517173.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3558,
          "referenceAllele": "C",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Pro1151Leu",
        "hgvsWellDefined": "XP_011517174.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3352,
          "referenceAllele": "C",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.3065C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Pro1022Leu",
        "hgvsWellDefined": "XP_011517175.1:p.Pro1022Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958400",
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro1302Leu",
        "hgvsWellDefined": "NP_000255.2:p.Pro1302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490975",
      "coordinates": [
        {
          "allele": "T",
          "end": 4293,
          "referenceAllele": "C",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro1236Leu",
        "hgvsWellDefined": "NP_001077071.1:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498138",
      "coordinates": [
        {
          "allele": "T",
          "end": 4047,
          "referenceAllele": "C",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro1301Leu",
        "hgvsWellDefined": "NP_001077072.1:p.Pro1301Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504882",
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "C",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077073.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508292",
      "coordinates": [
        {
          "allele": "T",
          "end": 3794,
          "referenceAllele": "C",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077074.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511288",
      "coordinates": [
        {
          "allele": "T",
          "end": 3893,
          "referenceAllele": "C",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077075.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514033",
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077076.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035250",
      "coordinates": [
        {
          "allele": "T",
          "end": 3937,
          "referenceAllele": "C",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro1250Leu",
        "hgvsWellDefined": "NP_001341847.1:p.Pro1250Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3927,
          "referenceAllele": "C",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3927C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958400",
      "coordinates": [
        {
          "allele": "T",
          "end": 4810,
          "referenceAllele": "C",
          "start": 4809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro1302Leu",
        "hgvsWellDefined": "NP_000255.2:p.Pro1302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3905C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3905C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro1302Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro1302Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511288",
      "coordinates": [
        {
          "allele": "T",
          "end": 3903,
          "referenceAllele": "C",
          "start": 3902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077075.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035250",
      "coordinates": [
        {
          "allele": "T",
          "end": 4654,
          "referenceAllele": "C",
          "start": 4653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro1250Leu",
        "hgvsWellDefined": "NP_001341847.1:p.Pro1250Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4644,
          "referenceAllele": "C",
          "start": 4643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4644C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490975",
      "coordinates": [
        {
          "allele": "T",
          "end": 4207,
          "referenceAllele": "C",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3707C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro1236Leu",
        "hgvsWellDefined": "NP_001077071.1:p.Pro1236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498138",
      "coordinates": [
        {
          "allele": "T",
          "end": 4053,
          "referenceAllele": "C",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro1301Leu",
        "hgvsWellDefined": "NP_001077072.1:p.Pro1301Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3902C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3902C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro1301Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro1301Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504882",
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "C",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077073.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508292",
      "coordinates": [
        {
          "allele": "T",
          "end": 3794,
          "referenceAllele": "C",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077074.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514033",
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro1151Leu",
        "hgvsWellDefined": "NP_001077076.1:p.Pro1151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}