{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1290835002",
  "communityStandardTitle": [
    "NM_002299.4(LCT):c.1084A= (p.Ile362=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4954449",
        "rs": 4954449
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135817964,
          "referenceAllele": "T",
          "start": 135817963
        }
      ],
      "hgvs": [
        "NC_000002.12:g.135817964T=",
        "CM000664.2:g.135817964T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 136575534,
          "referenceAllele": "T",
          "start": 136575533
        }
      ],
      "hgvs": [
        "NC_000002.11:g.136575534T=",
        "CM000664.1:g.136575534T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 136292004,
          "referenceAllele": "T",
          "start": 136292003
        }
      ],
      "hgvs": [
        "NC_000002.10:g.136292004T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42206,
          "referenceAllele": "A",
          "start": 42205
        }
      ],
      "hgvs": [
        "NG_008104.2:g.42206A=",
        "LRG_338:g.42206A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000849"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "A",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000264162.7:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264162.2:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264162.7:c.1084A="
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.1084A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Ile362="
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Ile362="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000264162.6:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264162.2:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066504298",
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.2:c.1084A=",
        "LRG_338t1:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066504298",
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.3:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "XM_017004088.2:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859577.1:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066504298",
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "A",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.4:c.1084A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Ile362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264162.7:c.1084A="
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.1084A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Ile362="
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Ile362="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}