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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
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.14130414C>T
CA1139325311
gnomAD v3
gnomAD v4
Y
g.14130417G>A
CA2824925641
Y
g.14130425G>T
CA1139325318
gnomAD v3
gnomAD v4
Y
g.14130433A=
CA2470638949
Y
g.14130433A>G
CA1139325319
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130436T>A
CA337743227
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130436T=
CA2470638950
Y
g.14130437A=
CA2470638951
Y
g.14130437A>G
CA337743228
dbSNP
Y
g.14130440T>C
CA2503305989
Y
g.14130441C>T
CA2561975097
Y
g.14130442C>A
CA1139325332
gnomAD v3
gnomAD v4
Y
g.14130442C>T
CA2502846999
Y
g.14130443C>T
CA2559723205
Y
g.14130446C>T
CA2565148331
Y
g.14130450T>A
CA2824925642
Y
g.14130456C>T
CA2563402144
Y
g.14130459G>A
CA2824925643
Y
g.14130461C>T
CA2545639102
Y
g.14130462C>T
CA2501011167
Y
g.14130463C>T
CA2541912624
Y
g.14130481C>A
CA1139325340
gnomAD v3
gnomAD v4
Y
g.14130487dup
CA2568000639
Y
g.14130498A>T
CA2824925644
Y
g.14130500G>T
CA2824925645
Y
g.14130501G>T
CA1139325352
gnomAD v3
gnomAD v4
Y
g.14130502A=
CA2470638952
Y
g.14130502A>G
CA1139325356
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130502A>T
CA2546397362
Y
g.14130504G>T
CA2520155864
Y
g.14130507T>G
CA2589301852
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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