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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.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
Y
g.7527799G>A
CA337590536
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527799G=
CA2469943235
Y
g.7527803C>A
CA1138951546
gnomAD v3
gnomAD v4
Y
g.7527815T>C
CA1138951550
gnomAD v3
gnomAD v4
Y
g.7527817C>G
CA2589277878
gnomAD v3
gnomAD v4
Y
g.7527817C>T
CA1138951553
gnomAD v3
gnomAD v4
Y
g.7527818T>G
CA1138951554
gnomAD v3
gnomAD v4
Y
g.7527822G>T
CA2557725235
Y
g.7527828del
CA2523215783
Y
g.7527838del
CA2824522389
Y
g.7527840A>G
CA1138951557
gnomAD v3
gnomAD v4
Y
g.7527841G>C
CA337590538
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527841G=
CA2469943236
Y
g.7527846A>G
CA1138951564
gnomAD v3
gnomAD v4
Y
g.7527861A=
CA2469943237
Y
g.7527861A>G
CA1138951567
dbSNP
gnomAD v3
gnomAD v4
Y
g.7527863T>A
CA2547630810
Y
g.7527869C>G
CA1138951569
gnomAD v3
gnomAD v4
Y
g.7527875A>G
CA1138951609
gnomAD v3
gnomAD v4
Number of alleles fetched
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