{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374112051",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809553[alleleid]",
        "alleleId": 809553,
        "preferredName": "NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/823329",
        "RCV": [
          "RCV001019488"
        ],
        "variationId": 823329
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98218607A>G?assembly=hg19",
        "id": "chr9:g.98218607A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95456325A>G?assembly=hg38",
        "id": "chr9:g.95456325A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588535542",
        "rs": 1588535542
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95456325,
          "referenceAllele": "A",
          "start": 95456324
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95456325A>G",
        "CM000671.2:g.95456325A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 98218607,
          "referenceAllele": "A",
          "start": 98218606
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98218607A>G",
        "CM000671.1:g.98218607A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97258428,
          "referenceAllele": "A",
          "start": 97258427
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97258428A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65641,
          "referenceAllele": "T",
          "start": 65640
        }
      ],
      "hgvs": [
        "NG_007664.1:g.65641T>C",
        "LRG_515:g.65641T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3559,
          "referenceAllele": "T",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Leu1020Pro",
        "hgvsWellDefined": "ENSP00000518556.1:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3405,
          "referenceAllele": "T",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3254T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Leu1085Pro",
        "hgvsWellDefined": "ENSP00000389744.2:p.Leu1085Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3254T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3254T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu1085Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu1085Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1565T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1565T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2945,
          "referenceAllele": "T",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Leu935Pro",
        "hgvsWellDefined": "ENSP00000510238.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "T",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.588T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4162,
          "referenceAllele": "T",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu1086Pro",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3257T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3257T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu1086Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu1086Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3557,
          "referenceAllele": "T",
          "start": 3556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu1086Pro",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3399,
          "referenceAllele": "T",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3254T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Leu1085Pro",
        "hgvsWellDefined": "ENSP00000364423.2:p.Leu1085Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3026,
          "referenceAllele": "T",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.3026T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.3026T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "T",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Leu935Pro",
        "hgvsWellDefined": "ENSP00000396135.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3163,
          "referenceAllele": "T",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Leu935Pro",
        "hgvsWellDefined": "ENSP00000399981.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Leu935Pro",
        "hgvsWellDefined": "ENSP00000414823.2:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3645,
          "referenceAllele": "T",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Leu1020Pro",
        "hgvsWellDefined": "ENSP00000410287.2:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3553,
          "referenceAllele": "T",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Leu1020Pro",
        "hgvsWellDefined": "ENSP00000389744.1:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121892",
      "coordinates": [
        {
          "allele": "C",
          "end": 3445,
          "referenceAllele": "T",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3257T>C",
        "LRG_515t1:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1086Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490336",
      "coordinates": [
        {
          "allele": "C",
          "end": 3553,
          "referenceAllele": "T",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3059T>C",
        "LRG_515t2:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1020Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496973",
      "coordinates": [
        {
          "allele": "C",
          "end": 3399,
          "referenceAllele": "T",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3254T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1085Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1085Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503811",
      "coordinates": [
        {
          "allele": "C",
          "end": 3163,
          "referenceAllele": "T",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507768",
      "coordinates": [
        {
          "allele": "C",
          "end": 3146,
          "referenceAllele": "T",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510766",
      "coordinates": [
        {
          "allele": "C",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970196",
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "T",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3003,
          "referenceAllele": "T",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Leu935Pro",
        "hgvsWellDefined": "XP_005252159.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3301,
          "referenceAllele": "T",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3101T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Leu1034Pro",
        "hgvsWellDefined": "XP_011517170.1:p.Leu1034Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2952,
          "referenceAllele": "T",
          "start": 2951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Leu935Pro",
        "hgvsWellDefined": "XP_011517171.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2940,
          "referenceAllele": "T",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Leu935Pro",
        "hgvsWellDefined": "XP_011517172.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2927,
          "referenceAllele": "T",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Leu935Pro",
        "hgvsWellDefined": "XP_011517173.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2910,
          "referenceAllele": "T",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Leu935Pro",
        "hgvsWellDefined": "XP_011517174.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2704,
          "referenceAllele": "T",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Leu806Pro",
        "hgvsWellDefined": "XP_011517175.1:p.Leu806Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3457,
          "referenceAllele": "T",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Leu1086Pro",
        "hgvsWellDefined": "XP_011517176.1:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121892",
      "coordinates": [
        {
          "allele": "C",
          "end": 3445,
          "referenceAllele": "T",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1086Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490336",
      "coordinates": [
        {
          "allele": "C",
          "end": 3645,
          "referenceAllele": "T",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1020Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496973",
      "coordinates": [
        {
          "allele": "C",
          "end": 3399,
          "referenceAllele": "T",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3254T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1085Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1085Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503811",
      "coordinates": [
        {
          "allele": "C",
          "end": 3163,
          "referenceAllele": "T",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507768",
      "coordinates": [
        {
          "allele": "C",
          "end": 3146,
          "referenceAllele": "T",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510766",
      "coordinates": [
        {
          "allele": "C",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970196",
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "T",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034324",
      "coordinates": [
        {
          "allele": "C",
          "end": 3289,
          "referenceAllele": "T",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3101T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu1034Pro",
        "hgvsWellDefined": "NP_001341847.1:p.Leu1034Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3279,
          "referenceAllele": "T",
          "start": 3278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121892",
      "coordinates": [
        {
          "allele": "C",
          "end": 4162,
          "referenceAllele": "T",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1086Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1086Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3257T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3257T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu1086Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu1086Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510766",
      "coordinates": [
        {
          "allele": "C",
          "end": 3255,
          "referenceAllele": "T",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034324",
      "coordinates": [
        {
          "allele": "C",
          "end": 4006,
          "referenceAllele": "T",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3101T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu1034Pro",
        "hgvsWellDefined": "NP_001341847.1:p.Leu1034Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3996,
          "referenceAllele": "T",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.3996T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490336",
      "coordinates": [
        {
          "allele": "C",
          "end": 3559,
          "referenceAllele": "T",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1020Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1020Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496973",
      "coordinates": [
        {
          "allele": "C",
          "end": 3405,
          "referenceAllele": "T",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3254T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1085Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1085Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3254T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3254T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu1085Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu1085Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503811",
      "coordinates": [
        {
          "allele": "C",
          "end": 3163,
          "referenceAllele": "T",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507768",
      "coordinates": [
        {
          "allele": "C",
          "end": 3146,
          "referenceAllele": "T",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970196",
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "T",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu935Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu935Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}