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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.17237728A>T
CA2556913169
Y
g.17237735T>A
CA2470834165
dbSNP
Y
g.17237735T>C
CA337296582
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237735T>G
CA2470834164
dbSNP
Y
g.17237735T=
CA2470834166
Y
g.17237742A>G
CA1139368547
gnomAD v3
gnomAD v4
Y
g.17237745del
CA2526525026
Y
g.17237756G=
CA2470834167
Y
g.17237763dup
CA1139368549
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237771A=
CA2470834168
Y
g.17237771A>T
CA337296583
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237776G>T
CA1139368557
gnomAD v3
gnomAD v4
Y
g.17237777C=
CA2470834169
Y
g.17237777C>T
CA2470834170
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237778A>G
CA2540369335
Y
g.17237784C=
CA2470834171
Y
g.17237784C>T
CA1139368561
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237786G>A
CA2499653160
Y
g.17237786G>C
CA1139368563
gnomAD v3
gnomAD v4
Y
g.17237796G>A
CA2514618584
Y
g.17237806G=
CA2470834172
Y
g.17237806G>T
CA1139368567
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237815G>T
CA1139368571
gnomAD v3
gnomAD v4
Y
g.17237821T>C
CA2513175207
Y
g.17237826C=
CA2470834173
Y
g.17237826C>T
CA1139368572
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237827G>C
CA1139368575
dbSNP
gnomAD v3
gnomAD v4
Y
g.17237827G=
CA2470834174
Number of alleles fetched
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