{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374113770",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524795[alleleid]",
        "alleleId": 524795,
        "preferredName": "NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524579",
        "RCV": [
          "RCV000628415",
          "RCV001018732",
          "RCV003459483"
        ],
        "variationId": 524579
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98242712G>C?assembly=hg19",
        "id": "chr9:g.98242712G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95480430G>C?assembly=hg38",
        "id": "chr9:g.95480430G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1487227339",
        "rs": 1487227339
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98242712-G-C?dataset=gnomad_r2_1",
        "id": "9-98242712-G-C",
        "variant": "9:98242712 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95480430-G-C?dataset=gnomad_r3",
        "id": "9-95480430-G-C",
        "variant": "9:95480430 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95480430-G-C?dataset=gnomad_r4",
        "id": "9-95480430-G-C",
        "variant": "9:95480430 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95480430,
          "referenceAllele": "G",
          "start": 95480429
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95480430G>C",
        "CM000671.2:g.95480430G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98242712,
          "referenceAllele": "G",
          "start": 98242711
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98242712G>C",
        "CM000671.1:g.98242712G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97282533,
          "referenceAllele": "G",
          "start": 97282532
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97282533G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41536,
          "referenceAllele": "C",
          "start": 41535
        }
      ],
      "hgvs": [
        "NG_007664.1:g.41536C>G",
        "LRG_515:g.41536C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Pro236Arg",
        "hgvsWellDefined": "ENSP00000518556.1:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Pro301Arg",
        "hgvsWellDefined": "ENSP00000389744.2:p.Pro301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.902C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.902C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro301Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro301Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000509379.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000510238.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro302Arg",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.905C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.905C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro302Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro302Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1205,
          "referenceAllele": "C",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro302Arg",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.56C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:p.Pro19Arg",
        "hgvsWellDefined": "ENSP00000364420.4:p.Pro19Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Pro301Arg",
        "hgvsWellDefined": "ENSP00000364423.2:p.Pro301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Pro181Arg",
        "hgvsWellDefined": "ENSP00000364439.2:p.Pro181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000396135.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000399981.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000414823.2:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Pro236Arg",
        "hgvsWellDefined": "ENSP00000410287.2:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Pro236Arg",
        "hgvsWellDefined": "ENSP00000389744.1:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000488809.2:n.26C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546820.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448843.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000448843.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000547672.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447878.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000447878.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548420.1:c.65C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449078.1:p.Pro22Arg",
        "hgvsWellDefined": "ENSP00000449078.1:p.Pro22Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551845.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447008.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000447008.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000553011.5:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447797.1:p.Pro151Arg",
        "hgvsWellDefined": "ENSP00000447797.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804641",
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.905C>G",
        "LRG_515t1:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro302Arg",
        "hgvsWellDefined": "NP_000255.2:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488134",
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.707C>G",
        "LRG_515t2:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro236Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492734",
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro301Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Pro301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500075",
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506060",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509057",
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511923",
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Pro151Arg",
        "hgvsWellDefined": "XP_005252159.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Pro302Arg",
        "hgvsWellDefined": "XP_011517170.1:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Pro151Arg",
        "hgvsWellDefined": "XP_011517171.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Pro151Arg",
        "hgvsWellDefined": "XP_011517172.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Pro151Arg",
        "hgvsWellDefined": "XP_011517173.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Pro151Arg",
        "hgvsWellDefined": "XP_011517174.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.65C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Pro22Arg",
        "hgvsWellDefined": "XP_011517175.1:p.Pro22Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Pro302Arg",
        "hgvsWellDefined": "XP_011517176.1:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804641",
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro302Arg",
        "hgvsWellDefined": "NP_000255.2:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488134",
      "coordinates": [
        {
          "allele": "G",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro236Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492734",
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro301Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Pro301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500075",
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506060",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509057",
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511923",
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042865",
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro302Arg",
        "hgvsWellDefined": "NP_001341847.1:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.1093C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804641",
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro302Arg",
        "hgvsWellDefined": "NP_000255.2:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.905C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.905C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro302Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro302Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509057",
      "coordinates": [
        {
          "allele": "G",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042865",
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.905C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro302Arg",
        "hgvsWellDefined": "NP_001341847.1:p.Pro302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.1810C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488134",
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro236Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Pro236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492734",
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro301Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Pro301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.902C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.902C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro301Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro301Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500075",
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506060",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511923",
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro151Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Pro151Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}