{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1713939789",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.283C= (p.Arg95=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940585",
        "rs": 28940585
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66082443,
          "referenceAllele": "C",
          "start": 66082442
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66082443C=",
        "CM000669.2:g.66082443C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65547430,
          "referenceAllele": "C",
          "start": 65547429
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65547430C=",
        "CM000669.1:g.65547430C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65184865,
          "referenceAllele": "C",
          "start": 65184864
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65184865C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11655,
          "referenceAllele": "C",
          "start": 11654
        }
      ],
      "hgvs": [
        "NG_009288.1:g.11655C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.283C="
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.283C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Arg95="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Arg95="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Arg30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "referenceAllele": "C",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.453C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.531C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673594.1:n.132C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:p.Arg30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000487982.5:n.349C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000496336.1:n.524C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028256",
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338055",
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338403",
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338721",
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028256",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.283C="
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.283C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Arg95="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Arg95="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338055",
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338403",
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338721",
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}