{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138936",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.454A>G (p.Met152Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969934[alleleid]",
        "alleleId": 969934,
        "preferredName": "NM_000264.5(PTCH1):c.454A>G (p.Met152Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981837",
        "RCV": [
          "RCV001374516",
          "RCV001880015",
          "RCV004035390"
        ],
        "variationId": 981837
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98248097-T-C",
        "id": "9-98248097-T-C",
        "variant": "9:98248097 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98248097T>C?assembly=hg19",
        "id": "chr9:g.98248097T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95485815T>C?assembly=hg38",
        "id": "chr9:g.95485815T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766905791",
        "rs": 766905791
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98248097-T-C?dataset=gnomad_r2_1",
        "id": "9-98248097-T-C",
        "variant": "9:98248097 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95485815-T-C?dataset=gnomad_r4",
        "id": "9-95485815-T-C",
        "variant": "9:95485815 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95485815,
          "referenceAllele": "T",
          "start": 95485814
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95485815T>C",
        "CM000671.2:g.95485815T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98248097,
          "referenceAllele": "T",
          "start": 98248096
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98248097T>C",
        "CM000671.1:g.98248097T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97287918,
          "referenceAllele": "T",
          "start": 97287917
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97287918T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36151,
          "referenceAllele": "A",
          "start": 36150
        }
      ],
      "hgvs": [
        "NG_007664.1:g.36151A>G",
        "LRG_515:g.36151A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Met86Val",
        "hgvsWellDefined": "ENSP00000518556.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Met151Val",
        "hgvsWellDefined": "ENSP00000389744.2:p.Met151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.451A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.451A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Met151Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Met151Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "referenceAllele": "A",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000509379.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "A",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000510238.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Met152Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Met152Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Met152Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Met152Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Met151Val",
        "hgvsWellDefined": "ENSP00000364423.2:p.Met151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.253A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Met85Val",
        "hgvsWellDefined": "ENSP00000364439.2:p.Met85Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000396135.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000399981.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Met1Val",
        "hgvsWellDefined": "ENSP00000414823.2:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Met86Val",
        "hgvsWellDefined": "ENSP00000410287.2:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Met86Val",
        "hgvsWellDefined": "ENSP00000389744.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000468211.6:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449745.1:p.Met86Val",
        "hgvsWellDefined": "ENSP00000449745.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546820.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448843.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000448843.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000547672.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447878.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000447878.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "referenceAllele": "A",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548379.5:n.107A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 5226,
          "referenceAllele": "A",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548420.1:c.-94-5227A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449078.1:n.-94-5227A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 5226,
          "referenceAllele": "A",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548945.6:n.194-5227A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000550914.6:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450047.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000450047.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551623.1:c.96A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447242.1:n.96A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "A",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551630.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450131.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000450131.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551845.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447008.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000447008.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000553011.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447797.1:p.Met1Val",
        "hgvsWellDefined": "ENSP00000447797.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "A",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000553256.5:n.200A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119044",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.454A>G",
        "LRG_515t1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Met152Val",
        "hgvsWellDefined": "NP_000255.2:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487858",
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.256A>G",
        "LRG_515t2:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Met86Val",
        "hgvsWellDefined": "NP_001077071.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825491967",
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Met151Val",
        "hgvsWellDefined": "NP_001077072.1:p.Met151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499253",
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077073.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505736",
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077074.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508735",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077075.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511730",
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077076.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "A",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Met1Val",
        "hgvsWellDefined": "XP_005252159.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Met152Val",
        "hgvsWellDefined": "XP_011517170.1:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "A",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Met1Val",
        "hgvsWellDefined": "XP_011517171.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "A",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Met1Val",
        "hgvsWellDefined": "XP_011517172.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "A",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Met1Val",
        "hgvsWellDefined": "XP_011517173.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "referenceAllele": "A",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Met1Val",
        "hgvsWellDefined": "XP_011517174.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 5226,
          "referenceAllele": "A",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.-94-5227A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:n.-94-5227A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Met152Val",
        "hgvsWellDefined": "XP_011517176.1:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119044",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Met152Val",
        "hgvsWellDefined": "NP_000255.2:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487858",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Met86Val",
        "hgvsWellDefined": "NP_001077071.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825491967",
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Met151Val",
        "hgvsWellDefined": "NP_001077072.1:p.Met151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499253",
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077073.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505736",
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077074.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508735",
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077075.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511730",
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077076.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031450",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Met152Val",
        "hgvsWellDefined": "NP_001341847.1:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499252627",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.1:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Met86Val",
        "hgvsWellDefined": "NP_001341848.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.642A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119044",
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Met152Val",
        "hgvsWellDefined": "NP_000255.2:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Met152Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Met152Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508735",
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "A",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077075.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031450",
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Met152Val",
        "hgvsWellDefined": "NP_001341847.1:p.Met152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.1359A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487858",
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Met86Val",
        "hgvsWellDefined": "NP_001077071.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825491967",
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Met151Val",
        "hgvsWellDefined": "NP_001077072.1:p.Met151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.451A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.451A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Met151Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Met151Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499253",
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077073.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505736",
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077074.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511730",
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Met1Val",
        "hgvsWellDefined": "NP_001077076.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499252627",
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.256A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Met86Val",
        "hgvsWellDefined": "NP_001341848.1:p.Met86Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}