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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.7527706A=
CA2469943223
Y
g.7527706A>G
CA1138951483
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527709C>T
CA1138951486
gnomAD v3
gnomAD v4
Y
g.7527711G>T
CA2544777930
Y
g.7527729C=
CA2469943224
Y
g.7527729C>T
CA1138951493
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527735G>A
CA337590522
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527735G=
CA2469943225
Y
g.7527735G>T
CA1138951499
gnomAD v3
gnomAD v4
Y
g.7527739T>C
CA2538797965
Y
g.7527744C=
CA2469943226
Y
g.7527744C>T
CA337590524
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527758A=
CA2469943227
Y
g.7527758A>G
CA1138951511
dbSNP
Y
g.7527759T>C
CA2469943229
dbSNP
Y
g.7527759T=
CA2469943228
Y
g.7527765G>A
CA2469943231
dbSNP
Y
g.7527765G>C
CA337590528
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527765G=
CA2469943230
Y
g.7527771T>C
CA337590529
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527771T=
CA2469943232
Y
g.7527777T>C
CA337590532
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527777T=
CA2469943233
Y
g.7527782del
CA2507500311
Y
g.7527786G>A
CA1138951519
gnomAD v3
gnomAD v4
Y
g.7527788A>G
CA1138951526
gnomAD v3
gnomAD v4
Y
g.7527794T>C
CA2824522387
Y
g.7527798C>A
CA337590534
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527798C=
CA2469943234
Y
g.7527798C>T
CA1138951531
gnomAD v3
gnomAD v4
Y
g.7527798_7527799insTAC
CA2824522388
Number of alleles fetched
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