{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374111944",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3306+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2173562[alleleid]",
        "alleleId": 2173562,
        "preferredName": "NM_000264.5(PTCH1):c.3306+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2122137",
        "RCV": [
          "RCV003043545"
        ],
        "variationId": 2122137
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98218556A>G?assembly=hg19",
        "id": "chr9:g.98218556A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95456274A>G?assembly=hg38",
        "id": "chr9:g.95456274A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2136647071",
        "rs": 2136647071
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95456274,
          "referenceAllele": "A",
          "start": 95456273
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95456274A>G",
        "CM000671.2:g.95456274A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 98218556,
          "referenceAllele": "A",
          "start": 98218555
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98218556A>G",
        "CM000671.1:g.98218556A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97258377,
          "referenceAllele": "A",
          "start": 97258376
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97258377A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65692,
          "referenceAllele": "T",
          "start": 65691
        }
      ],
      "hgvs": [
        "NG_007664.1:g.65692T>C",
        "LRG_515:g.65692T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3608,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3608,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3454,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3454,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3303+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:n.3303+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3303+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3303+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:n.3303+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:n.3303+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3129,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3129,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1614+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1614+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2994,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2994,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 637,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.637+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4211,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4211,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3306+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3306+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:n.3306+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:n.3306+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3606,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3606,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3448,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3448,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3303+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:n.3303+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3075,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.3075+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.3075+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3368,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3212,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3294,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3694,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3694,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3602,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3602,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3494,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3494,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3306+2T>C",
        "LRG_515t1:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3602,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3602,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3108+2T>C",
        "LRG_515t2:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3448,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3448,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3303+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.3303+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3212,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3195,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3294,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3368,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3052,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3052,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3350,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3350,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3150+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:n.3150+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3001,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2976,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2976,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2959,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2959,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2466+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:n.2466+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3506,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3506,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3494,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3494,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3694,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3694,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3448,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3448,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3303+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.3303+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3212,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3195,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3294,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3368,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3338,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3150+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:n.3150+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3328,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3328,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3328+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4211,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4211,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:n.3306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3306+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3306+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:n.3306+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:n.3306+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3304,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3304,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4055,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4055,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3150+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:n.3150+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4045,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4045+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3608,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3608,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3108+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:n.3108+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3454,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3454,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3303+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.3303+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3303+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3303+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:n.3303+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:n.3303+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3212,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3195,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3368,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2853+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:n.2853+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}