{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA466120653",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1635343[alleleid]",
        "alleleId": 1635343,
        "preferredName": "NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1530871",
        "RCV": [
          "RCV002099498",
          "RCV002386945"
        ],
        "variationId": 1530871
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98239976A>G?assembly=hg19",
        "id": "chr9:g.98239976A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2118311917",
        "rs": 2118311917
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95477694-A-G?dataset=gnomad_r4",
        "id": "9-95477694-A-G",
        "variant": "9:95477694 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95477694,
          "referenceAllele": "A",
          "start": 95477693
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95477694A>G",
        "CM000671.2:g.95477694A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 98239976,
          "referenceAllele": "A",
          "start": 98239975
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98239976A>G",
        "CM000671.1:g.98239976A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97279797,
          "referenceAllele": "A",
          "start": 97279796
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97279797A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44272,
          "referenceAllele": "T",
          "start": 44271
        }
      ],
      "hgvs": [
        "NG_007664.1:g.44272T>C",
        "LRG_515:g.44272T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "T",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "T",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.1353T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Tyr451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1353T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1353T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Tyr451="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Tyr451="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "T",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1356T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1356T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Tyr452="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Tyr452="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1656,
          "referenceAllele": "T",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "endIntronDirection": "+",
          "endIntronOffset": 361,
          "referenceAllele": "T",
          "start": 498,
          "startIntronDirection": "+",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.498+361T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:n.498+361T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.1353T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Tyr451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.993T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Tyr331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120142",
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.1356T>C",
        "LRG_515t1:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.1158T>C",
        "LRG_515t2:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493684",
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.1353T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500884",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506413",
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509410",
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512274",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1102,
          "referenceAllele": "T",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "endIntronDirection": "+",
          "endIntronOffset": 361,
          "referenceAllele": "T",
          "start": 1547,
          "startIntronDirection": "+",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.1347+361T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:n.1347+361T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "T",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1039,
          "referenceAllele": "T",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "T",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.516T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Tyr172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "T",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120142",
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493684",
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.1353T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500884",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506413",
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509410",
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512274",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "+",
          "endIntronOffset": 361,
          "referenceAllele": "T",
          "start": 1535,
          "startIntronDirection": "+",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.1347+361T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:n.1347+361T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.1544T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120142",
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.1356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1356T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1356T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Tyr452="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Tyr452="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509410",
      "coordinates": [
        {
          "allele": "C",
          "end": 1354,
          "referenceAllele": "T",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2252,
          "endIntronDirection": "+",
          "endIntronOffset": 361,
          "referenceAllele": "T",
          "start": 2252,
          "startIntronDirection": "+",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.1347+361T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:n.1347+361T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.2261T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "T",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.1158T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493684",
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "T",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.1353T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1353T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1353T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Tyr451="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Tyr451="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500884",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506413",
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512274",
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}