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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.7213421C>T
CA2824512832
Y
g.7213422T>A
CA2565279647
Y
g.7213422T>G
CA2739188708
dbSNP
Y
g.7213423A>G
CA1138882860
gnomAD v3
gnomAD v4
Y
g.7213429C>A
CA2532235073
Y
g.7213438C>T
CA2824512833
Y
g.7213446G>A
CA1138882862
gnomAD v3
gnomAD v4
Y
g.7213454A>G
CA2824512834
Y
g.7213461G>A
CA880388522
dbSNP
gnomAD v3
gnomAD v4
Y
g.7213461G=
CA2469924708
Y
g.7213462G>A
CA2469924710
dbSNP
Y
g.7213462G=
CA2469924709
Y
g.7213465C>T
CA2501922748
Y
g.7213469A>C
CA2543911251
Y
g.7213475C>G
CA1138882868
gnomAD v3
gnomAD v4
Y
g.7213479C>T
CA2537205235
gnomAD v3
gnomAD v4
Y
g.7213480G>A
CA1138882870
gnomAD v3
gnomAD v4
Y
g.7213480G>T
CA2517922973
Y
g.7213487T>C
CA2824512835
Y
g.7213496C>T
CA2544188078
Y
g.7213500G>C
CA2824512836
Y
g.7213507C=
CA2469924711
Y
g.7213507C>T
CA1138882872
dbSNP
gnomAD v3
gnomAD v4
Y
g.7213508G>A
CA2824512837
Y
g.7213510del
CA2549937505
Y
g.7213510G>C
CA2521147948
Y
g.7213510G>T
CA2507962392
Y
g.7213511A>G
CA2518992454
Y
g.7213515C>A
CA2569306904
Y
g.7213519A>G
CA2524881820
Y
g.7213520T>C
CA337581198
dbSNP
gnomAD v3
gnomAD v4
Y
g.7213520T>G
CA2507501041
Y
g.7213520T=
CA2469924866
Number of alleles fetched
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