{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2191485185",
  "communityStandardTitle": [
    "NM_001278512.2(AP3B2):c.199C= (p.Arg67=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775024756",
        "rs": 775024756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 82689223,
          "referenceAllele": "G",
          "start": 82689222
        }
      ],
      "hgvs": [
        "NC_000015.10:g.82689223G=",
        "CM000677.2:g.82689223G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 83357975,
          "referenceAllele": "G",
          "start": 83357974
        }
      ],
      "hgvs": [
        "NC_000015.9:g.83357975G=",
        "CM000677.1:g.83357975G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 81155029,
          "referenceAllele": "G",
          "start": 81155028
        }
      ],
      "hgvs": [
        "NC_000015.8:g.81155029G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25686,
          "referenceAllele": "C",
          "start": 25685
        }
      ],
      "hgvs": [
        "NG_052957.1:g.25686C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617270"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000261722.8:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261722.4:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535359.6:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440984.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000535359.6:c.199C="
          },
          "RefSeq": {
            "hgvs": "NM_001278512.2:c.199C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000440984.1:p.Arg67="
          },
          "RefSeq": {
            "hgvs": "NP_001265441.1:p.Arg67="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535385.6:n.376C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535513.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499258.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000537735.2:n.345C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000543938.6:n.402C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000642989.2:c.328C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493485.1:p.Arg110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000652847.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499785.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000657321.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499716.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000663651.1:n.341C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000664460.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499798.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000666055.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499608.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000666973.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499288.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000667758.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499318.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "endIntronDirection": "-",
          "endIntronOffset": 110,
          "referenceAllele": "C",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000668385.1:c.190-111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499544.1:n.190-111C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000668990.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499235.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 155,
          "referenceAllele": "C",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000669930.1:c.189+155C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499671.1:n.189+155C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679388.1:n.138C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679531.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679950.1:n.408C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000680492.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000680946.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681044.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681327.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505423.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681452.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681464.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000261722.7:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261722.3:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535348.5:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438721.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535359.5:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440984.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535385.5:n.376C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535513.1:n.366C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000541693.5:c.67C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441961.1:p.Arg23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000542200.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440719.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000561455.5:n.166C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000620652.4:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479229.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278511.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265440.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278512.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265441.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082178399",
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_004644.4:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004635.2:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1328,
          "endIntronDirection": "-",
          "endIntronOffset": 2787,
          "referenceAllele": "G",
          "start": 1328,
          "startIntronDirection": "-",
          "startIntronOffset": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027523",
      "geneNCBI_id": 283692,
      "geneSymbol": "CPEB1-AS1",
      "hgvs": [
        "NR_046096.1:n.1329-2788G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522097.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520399.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522098.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520400.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522099.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520401.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001348440.1:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335369.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_017022640.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878129.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_017022641.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878130.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XR_001751404.2:n.365C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278512.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265441.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000535359.6:c.199C="
          },
          "RefSeq": {
            "hgvs": "NM_001278512.2:c.199C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000440984.1:p.Arg67="
          },
          "RefSeq": {
            "hgvs": "NP_001265441.1:p.Arg67="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082178399",
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_004644.5:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004635.2:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278511.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265440.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001348440.2:c.199C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335369.1:p.Arg67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719169"
    }
  ],
  "type": "nucleotide"
}