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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.8011315G=
CA2469966201
Y
g.8011315G>T
CA2469966202
dbSNP
Y
g.8011318T>G
CA1138931431
gnomAD v3
gnomAD v4
Y
g.8011322G>C
CA2507499557
Y
g.8011323G>A
CA2824533467
Y
g.8011328T>G
CA2500137471
Y
g.8011342T>C
CA1138931435
gnomAD v3
gnomAD v4
Y
g.8011345G=
CA2469966203
Y
g.8011345G>T
CA1138931445
dbSNP
gnomAD v3
gnomAD v4
Y
g.8011351del
CA2589279135
gnomAD v3
gnomAD v4
Y
g.8011355C>A
CA1138931446
dbSNP
gnomAD v3
gnomAD v4
Y
g.8011355C=
CA2469966204
Y
g.8011357G>A
CA337601157
dbSNP
gnomAD v3
gnomAD v4
Y
g.8011357G=
CA2469966205
Y
g.8011358T>A
CA2824533468
Y
g.8011359G>T
CA2567178469
Y
g.8011374A=
CA2469966206
Y
g.8011374A>C
CA337601161
dbSNP
gnomAD v3
gnomAD v4
Y
g.8011374A>G
CA2580713945
Y
g.8011374A>T
CA2580713946
Y
g.8011386G>T
CA2507498099
Y
g.8011389C>A
CA2469966208
dbSNP
Y
g.8011389C=
CA2469966207
Y
g.8011389C>G
CA1138931453
gnomAD v3
gnomAD v4
Y
g.8011391A>G
CA1138931463
gnomAD v3
gnomAD v4
Y
g.8011399T>G
CA2824533469
Y
g.8011410G>A
CA337601164
dbSNP
Y
g.8011410G=
CA2469966209
Y
g.8011413T>A
CA2563401020
Y
g.8011415G>A
CA1138931469
gnomAD v3
gnomAD v4
Number of alleles fetched
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