{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138401",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1008754[alleleid]",
        "alleleId": 1008754,
        "preferredName": "NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1014819",
        "RCV": [
          "RCV001313606"
        ],
        "variationId": 1014819
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98229515-T-C",
        "id": "9-98229515-T-C",
        "variant": "9:98229515 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98229515T>C?assembly=hg19",
        "id": "chr9:g.98229515T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95467233T>C?assembly=hg38",
        "id": "chr9:g.95467233T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375257965",
        "rs": 375257965
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98229515-T-C?dataset=gnomad_r2_1",
        "id": "9-98229515-T-C",
        "variant": "9:98229515 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95467233-T-C?dataset=gnomad_r3",
        "id": "9-95467233-T-C",
        "variant": "9:95467233 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95467233-T-C?dataset=gnomad_r4",
        "id": "9-95467233-T-C",
        "variant": "9:95467233 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95467233,
          "referenceAllele": "T",
          "start": 95467232
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95467233T>C",
        "CM000671.2:g.95467233T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98229515,
          "referenceAllele": "T",
          "start": 98229514
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98229515T>C",
        "CM000671.1:g.98229515T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97269336,
          "referenceAllele": "T",
          "start": 97269335
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97269336T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54733,
          "referenceAllele": "A",
          "start": 54732
        }
      ],
      "hgvs": [
        "NG_007664.1:g.54733A>G",
        "LRG_515:g.54733A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Ile749Val",
        "hgvsWellDefined": "ENSP00000518556.1:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "referenceAllele": "A",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Ile814Val",
        "hgvsWellDefined": "ENSP00000389744.2:p.Ile814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2440A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2440A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ile814Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ile814Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2266,
          "referenceAllele": "A",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*751A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*751A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Ile664Val",
        "hgvsWellDefined": "ENSP00000510238.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3348,
          "referenceAllele": "A",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ile815Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2443A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2443A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ile815Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ile815Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2743,
          "referenceAllele": "A",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ile815Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "A",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Ile814Val",
        "hgvsWellDefined": "ENSP00000364423.2:p.Ile814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.2212A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.2212A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2505,
          "referenceAllele": "A",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Ile664Val",
        "hgvsWellDefined": "ENSP00000396135.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Ile664Val",
        "hgvsWellDefined": "ENSP00000399981.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2431,
          "referenceAllele": "A",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Ile664Val",
        "hgvsWellDefined": "ENSP00000414823.2:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Ile749Val",
        "hgvsWellDefined": "ENSP00000410287.2:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2739,
          "referenceAllele": "A",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Ile749Val",
        "hgvsWellDefined": "ENSP00000389744.1:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230553",
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "A",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.2443A>G",
        "LRG_515t1:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ile815Val",
        "hgvsWellDefined": "NP_000255.2:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489305",
      "coordinates": [
        {
          "allele": "G",
          "end": 2739,
          "referenceAllele": "A",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.2245A>G",
        "LRG_515t2:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ile749Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495671",
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "A",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ile814Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ile814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502845",
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507197",
      "coordinates": [
        {
          "allele": "G",
          "end": 2332,
          "referenceAllele": "A",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510195",
      "coordinates": [
        {
          "allele": "G",
          "end": 2431,
          "referenceAllele": "A",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513061",
      "coordinates": [
        {
          "allele": "G",
          "end": 2505,
          "referenceAllele": "A",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "T",
          "start": 481,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "hgvs": [
        "NR_038982.1:n.481+13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2189,
          "referenceAllele": "A",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Ile664Val",
        "hgvsWellDefined": "XP_005252159.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2487,
          "referenceAllele": "A",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.2287A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Ile763Val",
        "hgvsWellDefined": "XP_011517170.1:p.Ile763Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "A",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Ile664Val",
        "hgvsWellDefined": "XP_011517171.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2126,
          "referenceAllele": "A",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Ile664Val",
        "hgvsWellDefined": "XP_011517172.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2113,
          "referenceAllele": "A",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Ile664Val",
        "hgvsWellDefined": "XP_011517173.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Ile664Val",
        "hgvsWellDefined": "XP_011517174.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "A",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.1603A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Ile535Val",
        "hgvsWellDefined": "XP_011517175.1:p.Ile535Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2643,
          "referenceAllele": "A",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Ile815Val",
        "hgvsWellDefined": "XP_011517176.1:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230553",
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "A",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ile815Val",
        "hgvsWellDefined": "NP_000255.2:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489305",
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ile749Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495671",
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "A",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ile814Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ile814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502845",
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507197",
      "coordinates": [
        {
          "allele": "G",
          "end": 2332,
          "referenceAllele": "A",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510195",
      "coordinates": [
        {
          "allele": "G",
          "end": 2431,
          "referenceAllele": "A",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513061",
      "coordinates": [
        {
          "allele": "G",
          "end": 2505,
          "referenceAllele": "A",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033449",
      "coordinates": [
        {
          "allele": "G",
          "end": 2475,
          "referenceAllele": "A",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.2287A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ile763Val",
        "hgvsWellDefined": "NP_001341847.1:p.Ile763Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2465,
          "referenceAllele": "A",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.2465A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230553",
      "coordinates": [
        {
          "allele": "G",
          "end": 3348,
          "referenceAllele": "A",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.2443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ile815Val",
        "hgvsWellDefined": "NP_000255.2:p.Ile815Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2443A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2443A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ile815Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ile815Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510195",
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033449",
      "coordinates": [
        {
          "allele": "G",
          "end": 3192,
          "referenceAllele": "A",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.2287A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ile763Val",
        "hgvsWellDefined": "NP_001341847.1:p.Ile763Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3182,
          "referenceAllele": "A",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.3182A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489305",
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.2245A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ile749Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ile749Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495671",
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "referenceAllele": "A",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ile814Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ile814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2440A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2440A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ile814Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ile814Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502845",
      "coordinates": [
        {
          "allele": "G",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507197",
      "coordinates": [
        {
          "allele": "G",
          "end": 2332,
          "referenceAllele": "A",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513061",
      "coordinates": [
        {
          "allele": "G",
          "end": 2505,
          "referenceAllele": "A",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.1990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ile664Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ile664Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}