{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1703813214",
  "communityStandardTitle": [
    "NM_001101648.2(NPC1L1):c.163G= (p.Val55=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119457968",
        "rs": 119457968
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44540234,
          "referenceAllele": "C",
          "start": 44540233
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44540234C=",
        "CM000669.2:g.44540234C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44579833,
          "referenceAllele": "C",
          "start": 44579832
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44579833C=",
        "CM000669.1:g.44579833C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44546358,
          "referenceAllele": "C",
          "start": 44546357
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44546358C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6082,
          "referenceAllele": "G",
          "start": 6081
        }
      ],
      "hgvs": [
        "NG_013088.1:g.6082G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002711"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "ENST00000381160.8:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370552.3:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381160.8:c.163G="
          },
          "RefSeq": {
            "hgvs": "NM_001101648.2:c.163G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370552.3:p.Val55="
          },
          "RefSeq": {
            "hgvs": "NP_001095118.1:p.Val55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "ENST00000289547.8:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289547.4:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "ENST00000381160.7:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370552.3:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "ENST00000423141.1:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404670.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "ENST00000546276.5:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438033.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_001101648.1:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001095118.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_001300967.1:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287896.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461652",
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_013389.2:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_037521.2:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "XM_011515326.1:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513628.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "XM_011515327.1:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513629.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "XM_011515326.3:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513628.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "G",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "XM_011515328.2:c.-1205G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513630.1:n.-1205G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "XR_002956423.1:n.555G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_001101648.2:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001095118.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381160.8:c.163G="
          },
          "RefSeq": {
            "hgvs": "NM_001101648.2:c.163G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370552.3:p.Val55="
          },
          "RefSeq": {
            "hgvs": "NP_001095118.1:p.Val55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_001300967.2:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287896.1:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461652",
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007898",
      "geneNCBI_id": 29881,
      "geneSymbol": "NPC1L1",
      "hgvs": [
        "NM_013389.3:c.163G="
      ],
      "proteinEffect": {
        "hgvs": "NP_037521.2:p.Val55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697126"
    }
  ],
  "type": "nucleotide"
}