{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1640421487",
  "communityStandardTitle": [
    "NM_017934.7(PHIP):c.545A= (p.His182=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518337",
        "rs": 1057518337
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 79042898,
          "referenceAllele": "T",
          "start": 79042897
        }
      ],
      "hgvs": [
        "NC_000006.12:g.79042898T=",
        "CM000668.2:g.79042898T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 79752615,
          "referenceAllele": "T",
          "start": 79752614
        }
      ],
      "hgvs": [
        "NC_000006.11:g.79752615T=",
        "CM000668.1:g.79752615T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 79809334,
          "referenceAllele": "T",
          "start": 79809333
        }
      ],
      "hgvs": [
        "NC_000006.10:g.79809334T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40401,
          "referenceAllele": "A",
          "start": 40400
        }
      ],
      "hgvs": [
        "NG_051932.1:g.40401A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700012.1:c.563A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514753.1:p.His188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700013.1:c.563A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514754.1:p.His188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "A",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700114.1:c.485A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514808.1:p.His162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700115.1:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514809.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "A",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700118.1:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514810.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700119.1:c.*356A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514811.1:n.*356A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "A",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000700120.1:n.473A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000275034.5:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275034.3:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275034.5:c.545A="
          },
          "RefSeq": {
            "hgvs": "NM_017934.7:c.545A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275034.3:p.His182="
          },
          "RefSeq": {
            "hgvs": "NP_060404.4:p.His182="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "A",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "ENST00000275034.4:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275034.3:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "NM_017934.5:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060404.3:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_005248729.3:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248786.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_011535917.1:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534219.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "A",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_011535918.1:c.29A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534220.1:p.His10="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_011535919.1:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534221.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XR_942499.1:n.771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072656064",
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "A",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "NM_017934.6:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060404.4:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_005248729.5:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248786.1:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_011535918.3:c.29A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534220.1:p.His10="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_017010989.2:c.-1185A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866478.1:n.-1185A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "XM_017010990.2:c.-1185A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866479.1:n.-1185A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072656064",
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "NM_017934.7:c.545A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060404.4:p.His182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275034.5:c.545A="
          },
          "RefSeq": {
            "hgvs": "NM_017934.7:c.545A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275034.3:p.His182="
          },
          "RefSeq": {
            "hgvs": "NP_060404.4:p.His182="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}