{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2122045027",
  "communityStandardTitle": [
    "NM_000270.4(PNP):c.383A= (p.Asp128=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894450",
        "rs": 104894450
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 20474870,
          "referenceAllele": "A",
          "start": 20474869
        }
      ],
      "hgvs": [
        "NC_000014.9:g.20474870A=",
        "CM000676.2:g.20474870A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 20943029,
          "referenceAllele": "A",
          "start": 20943028
        }
      ],
      "hgvs": [
        "NC_000014.8:g.20943029A=",
        "CM000676.1:g.20943029A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 20012869,
          "referenceAllele": "A",
          "start": 20012868
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20012869A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10488,
          "referenceAllele": "A",
          "start": 10487
        }
      ],
      "hgvs": [
        "NG_009631.1:g.10488A=",
        "LRG_91:g.10488A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001622"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000553591.2:c.500A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452421.2:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2693,
          "referenceAllele": "A",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000556293.6:n.2693A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3636,
          "referenceAllele": "A",
          "start": 3635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000556754.2:n.3636A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000557229.6:n.699A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000697613.1:c.383A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513359.1:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000697614.1:c.146A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513360.1:p.Asp49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "A",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000697615.1:n.1098A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "A",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000361505.10:c.383A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354532.6:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361505.10:c.383A="
          },
          "RefSeq": {
            "hgvs": "NM_000270.4:c.383A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354532.6:p.Asp128="
          },
          "RefSeq": {
            "hgvs": "NP_000261.2:p.Asp128="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "A",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000361505.9:c.383A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354532.5:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000553591.1:c.500A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452421.1:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "A",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000554056.5:n.691A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000554065.1:c.146A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451108.1:p.Asp49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000556754.1:n.1487A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "ENST00000557229.5:n.699A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107926",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "A",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "NM_000270.3:c.383A=",
        "LRG_91t1:c.383A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000261.2:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107926",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "A",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007892",
      "geneNCBI_id": 4860,
      "geneSymbol": "PNP",
      "hgvs": [
        "NM_000270.4:c.383A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000261.2:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674770",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361505.10:c.383A="
          },
          "RefSeq": {
            "hgvs": "NM_000270.4:c.383A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354532.6:p.Asp128="
          },
          "RefSeq": {
            "hgvs": "NP_000261.2:p.Asp128="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}