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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.19120585C=
CA2470877435
Y
g.19120585C>T
CA337359891
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120587C>T
CA2568533570
Y
g.19120594G>C
CA2515802763
Y
g.19120598G>A
CA2506642946
Y
g.19120599G>C
CA2503879947
Y
g.19120599G=
CA2470877436
Y
g.19120599G>T
CA1139484905
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120602A>T
CA2560850940
Y
g.19120609T>A
CA337359896
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120609T=
CA2470877437
Y
g.19120613T>A
CA337359903
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120613T=
CA2470877438
Y
g.19120616C=
CA2470877439
Y
g.19120616C>T
CA2470877440
dbSNP
Y
g.19120623C>A
CA1139484915
gnomAD v3
gnomAD v4
Y
g.19120631G>A
CA2470877442
dbSNP
Y
g.19120631G=
CA2470877441
Y
g.19120636G>A
CA2470877444
dbSNP
Y
g.19120636G=
CA2470877443
Y
g.19120640T>C
CA1139484918
gnomAD v3
gnomAD v4
Y
g.19120650C>A
CA2529025902
Y
g.19120650C=
CA2470877445
Y
g.19120650C>G
CA337359908
dbSNP
Y
g.19120654C>T
CA1139484919
gnomAD v3
gnomAD v4
Y
g.19120655C>T
CA1139484924
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120660T>C
CA2526601769
Y
g.19120661T>A
CA2517583844
Y
g.19120662C=
CA2470877446
Y
g.19120662C>T
CA1139484925
dbSNP
gnomAD v3
gnomAD v4
Y
g.19120664G>C
CA1139484926
gnomAD v3
gnomAD v4
Y
g.19120673T>C
CA2589317194
gnomAD v3
gnomAD v4
Y
g.19120682del
CA2567661992
Number of alleles fetched
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