{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138439",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.2177C>A (p.Pro726His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638528[alleleid]",
        "alleleId": 638528,
        "preferredName": "NM_000264.5(PTCH1):c.2177C>A (p.Pro726His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/641821",
        "RCV": [
          "RCV000795149",
          "RCV002424815"
        ],
        "variationId": 641821
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98231106-G-T",
        "id": "9-98231106-G-T",
        "variant": "9:98231106 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98231106G>T?assembly=hg19",
        "id": "chr9:g.98231106G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95468824G>T?assembly=hg38",
        "id": "chr9:g.95468824G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780697",
        "rs": 587780697
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98231106-G-T?dataset=gnomad_r2_1",
        "id": "9-98231106-G-T",
        "variant": "9:98231106 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95468824,
          "referenceAllele": "G",
          "start": 95468823
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95468824G>T",
        "CM000671.2:g.95468824G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98231106,
          "referenceAllele": "G",
          "start": 98231105
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98231106G>T",
        "CM000671.1:g.98231106G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97270927,
          "referenceAllele": "G",
          "start": 97270926
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97270927G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53142,
          "referenceAllele": "C",
          "start": 53141
        }
      ],
      "hgvs": [
        "NG_007664.1:g.53142C>A",
        "LRG_515:g.53142C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Pro660His",
        "hgvsWellDefined": "ENSP00000518556.1:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.2174C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Pro725His",
        "hgvsWellDefined": "ENSP00000389744.2:p.Pro725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2174C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2174C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro725His"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro725His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*485C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*485C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Pro575His",
        "hgvsWellDefined": "ENSP00000510238.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "C",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro726His",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2177C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2177C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro726His"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro726His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2477,
          "referenceAllele": "C",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Pro726His",
        "hgvsWellDefined": "ENSP00000332353.6:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.2174C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Pro725His",
        "hgvsWellDefined": "ENSP00000364423.2:p.Pro725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.1946C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.1946C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "C",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Pro575His",
        "hgvsWellDefined": "ENSP00000396135.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Pro575His",
        "hgvsWellDefined": "ENSP00000399981.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Pro575His",
        "hgvsWellDefined": "ENSP00000414823.2:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "C",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Pro660His",
        "hgvsWellDefined": "ENSP00000410287.2:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Pro660His",
        "hgvsWellDefined": "ENSP00000389744.1:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000549678.1:n.366C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958170",
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "C",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.2177C>A",
        "LRG_515t1:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro726His",
        "hgvsWellDefined": "NP_000255.2:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489066",
      "coordinates": [
        {
          "allele": "A",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.1979C>A",
        "LRG_515t2:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro660His",
        "hgvsWellDefined": "NP_001077071.1:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495283",
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.2174C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro725His",
        "hgvsWellDefined": "NP_001077072.1:p.Pro725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502431",
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077073.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507019",
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077074.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510016",
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077075.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512880",
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "C",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077076.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "hgvs": [
        "NR_038982.1:n.762G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Pro575His",
        "hgvsWellDefined": "XP_005252159.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Pro674His",
        "hgvsWellDefined": "XP_011517170.1:p.Pro674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Pro575His",
        "hgvsWellDefined": "XP_011517171.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Pro575His",
        "hgvsWellDefined": "XP_011517172.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "referenceAllele": "C",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Pro575His",
        "hgvsWellDefined": "XP_011517173.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Pro575His",
        "hgvsWellDefined": "XP_011517174.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.1337C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Pro446His",
        "hgvsWellDefined": "XP_011517175.1:p.Pro446His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2377,
          "referenceAllele": "C",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Pro726His",
        "hgvsWellDefined": "XP_011517176.1:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958170",
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "C",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro726His",
        "hgvsWellDefined": "NP_000255.2:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489066",
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "C",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro660His",
        "hgvsWellDefined": "NP_001077071.1:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495283",
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.2174C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro725His",
        "hgvsWellDefined": "NP_001077072.1:p.Pro725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502431",
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077073.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507019",
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077074.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510016",
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077075.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512880",
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "C",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077076.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033174",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro674His",
        "hgvsWellDefined": "NP_001341847.1:p.Pro674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "C",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.2365C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958170",
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "C",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.2177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Pro726His",
        "hgvsWellDefined": "NP_000255.2:p.Pro726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2177C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2177C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Pro726His"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Pro726His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510016",
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077075.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033174",
      "coordinates": [
        {
          "allele": "A",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Pro674His",
        "hgvsWellDefined": "NP_001341847.1:p.Pro674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "C",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.3082C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825489066",
      "coordinates": [
        {
          "allele": "A",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.1979C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Pro660His",
        "hgvsWellDefined": "NP_001077071.1:p.Pro660His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825495283",
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.2174C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Pro725His",
        "hgvsWellDefined": "NP_001077072.1:p.Pro725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2174C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2174C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Pro725His"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Pro725His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502431",
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077073.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507019",
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077074.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512880",
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "C",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.1724C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Pro575His",
        "hgvsWellDefined": "NP_001077076.1:p.Pro575His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}