{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374111239",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525278[alleleid]",
        "alleleId": 525278,
        "preferredName": "NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524523",
        "RCV": [
          "RCV000628356",
          "RCV004025317"
        ],
        "variationId": 524523
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98211512G>T?assembly=hg19",
        "id": "chr9:g.98211512G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95449230G>T?assembly=hg38",
        "id": "chr9:g.95449230G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554689404",
        "rs": 1554689404
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95449230,
          "referenceAllele": "G",
          "start": 95449229
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95449230G>T",
        "CM000671.2:g.95449230G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98211512,
          "referenceAllele": "G",
          "start": 98211511
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98211512G>T",
        "CM000671.1:g.98211512G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97251333,
          "referenceAllele": "G",
          "start": 97251332
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97251333G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72736,
          "referenceAllele": "C",
          "start": 72735
        }
      ],
      "hgvs": [
        "NG_007664.1:g.72736C>A",
        "LRG_515:g.72736C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3945,
          "referenceAllele": "C",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.His1149Asn",
        "hgvsWellDefined": "ENSP00000518556.1:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3791,
          "referenceAllele": "C",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3640C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.His1214Asn",
        "hgvsWellDefined": "ENSP00000389744.2:p.His1214Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3640C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3640C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.His1214Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.His1214Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.1840C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1951C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1951C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3331,
          "referenceAllele": "C",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.His1064Asn",
        "hgvsWellDefined": "ENSP00000510238.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.990C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "C",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3643C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.His1215Asn",
        "hgvsWellDefined": "ENSP00000332353.6:p.His1215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3643C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3643C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.His1215Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.His1215Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3943,
          "referenceAllele": "C",
          "start": 3942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3643C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.His1215Asn",
        "hgvsWellDefined": "ENSP00000332353.6:p.His1215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "C",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3640C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.His1214Asn",
        "hgvsWellDefined": "ENSP00000364423.2:p.His1214Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6949,
          "referenceAllele": "C",
          "start": 6948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.6949C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.6949C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.His1064Asn",
        "hgvsWellDefined": "ENSP00000396135.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "C",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.His1064Asn",
        "hgvsWellDefined": "ENSP00000399981.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.His1064Asn",
        "hgvsWellDefined": "ENSP00000414823.2:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "C",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.His1149Asn",
        "hgvsWellDefined": "ENSP00000410287.2:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "C",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.His1149Asn",
        "hgvsWellDefined": "ENSP00000389744.1:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.707C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804710",
      "coordinates": [
        {
          "allele": "A",
          "end": 3831,
          "referenceAllele": "C",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3643C>A",
        "LRG_515t1:c.3643C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His1215Asn",
        "hgvsWellDefined": "NP_000255.2:p.His1215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487336",
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "C",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3445C>A",
        "LRG_515t2:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His1149Asn",
        "hgvsWellDefined": "NP_001077071.1:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497593",
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "C",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3640C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His1214Asn",
        "hgvsWellDefined": "NP_001077072.1:p.His1214Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "C",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077073.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508059",
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "C",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077074.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511058",
      "coordinates": [
        {
          "allele": "A",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077075.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513800",
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077076.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3389,
          "referenceAllele": "C",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.His1064Asn",
        "hgvsWellDefined": "XP_005252159.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3687,
          "referenceAllele": "C",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3487C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.His1163Asn",
        "hgvsWellDefined": "XP_011517170.1:p.His1163Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3338,
          "referenceAllele": "C",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.His1064Asn",
        "hgvsWellDefined": "XP_011517171.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3326,
          "referenceAllele": "C",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.His1064Asn",
        "hgvsWellDefined": "XP_011517172.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3313,
          "referenceAllele": "C",
          "start": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.His1064Asn",
        "hgvsWellDefined": "XP_011517173.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3296,
          "referenceAllele": "C",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.His1064Asn",
        "hgvsWellDefined": "XP_011517174.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2803C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.His935Asn",
        "hgvsWellDefined": "XP_011517175.1:p.His935Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804710",
      "coordinates": [
        {
          "allele": "A",
          "end": 3831,
          "referenceAllele": "C",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3643C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His1215Asn",
        "hgvsWellDefined": "NP_000255.2:p.His1215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487336",
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "C",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His1149Asn",
        "hgvsWellDefined": "NP_001077071.1:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497593",
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "C",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3640C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His1214Asn",
        "hgvsWellDefined": "NP_001077072.1:p.His1214Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "C",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077073.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508059",
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "C",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077074.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511058",
      "coordinates": [
        {
          "allele": "A",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077075.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513800",
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077076.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034855",
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3487C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.His1163Asn",
        "hgvsWellDefined": "NP_001341847.1:p.His1163Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3665,
          "referenceAllele": "C",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3665C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804710",
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "C",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3643C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His1215Asn",
        "hgvsWellDefined": "NP_000255.2:p.His1215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3643C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3643C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.His1215Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.His1215Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511058",
      "coordinates": [
        {
          "allele": "A",
          "end": 3641,
          "referenceAllele": "C",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077075.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034855",
      "coordinates": [
        {
          "allele": "A",
          "end": 4392,
          "referenceAllele": "C",
          "start": 4391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3487C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.His1163Asn",
        "hgvsWellDefined": "NP_001341847.1:p.His1163Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "C",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4382C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487336",
      "coordinates": [
        {
          "allele": "A",
          "end": 3945,
          "referenceAllele": "C",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3445C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His1149Asn",
        "hgvsWellDefined": "NP_001077071.1:p.His1149Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497593",
      "coordinates": [
        {
          "allele": "A",
          "end": 3791,
          "referenceAllele": "C",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3640C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His1214Asn",
        "hgvsWellDefined": "NP_001077072.1:p.His1214Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3640C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3640C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.His1214Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.His1214Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "C",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077073.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508059",
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "C",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077074.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513800",
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "C",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3190C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His1064Asn",
        "hgvsWellDefined": "NP_001077076.1:p.His1064Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}