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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.17103689A=
CA2470825401
Y
g.17103689A>G
CA337281342
dbSNP
gnomAD v3
gnomAD v4
Y
g.17103690G>C
CA1139505097
gnomAD v3
gnomAD v4
Y
g.17103693A>G
CA1139505098
gnomAD v3
gnomAD v4
Y
g.17103706C>T
CA1139505099
gnomAD v3
gnomAD v4
Y
g.17103708C>T
CA1139505101
gnomAD v3
gnomAD v4
Y
g.17103711T>C
CA1139505103
gnomAD v3
gnomAD v4
Y
g.17103722A=
CA2470825402
Y
g.17103722A>T
CA1139505104
dbSNP
gnomAD v3
gnomAD v4
Y
g.17103726T>A
CA2739199313
dbSNP
Y
g.17103728C>T
CA2589315423
gnomAD v3
gnomAD v4
Y
g.17103730G>A
CA2589315424
gnomAD v3
gnomAD v4
Y
g.17103735A>G
CA2550666367
Y
g.17103752_17103753del
CA1139505105
gnomAD v3
gnomAD v4
Y
g.17103753C>G
CA1139505107
gnomAD v3
gnomAD v4
Y
g.17103756T>C
CA658588466
COSMIC
Y
g.17103758_17103760del
CA1139505112
gnomAD v3
gnomAD v4
Y
g.17103758C=
CA2470825403
Y
g.17103758C>T
CA2470825404
dbSNP
Y
g.17103759T>A
CA1139505119
gnomAD v3
gnomAD v4
Y
g.17103778C=
CA2470825405
Y
g.17103778C>T
CA337281343
dbSNP
gnomAD v3
gnomAD v4
Y
g.17103779A=
CA2470825406
Y
g.17103779A>C
CA337281349
dbSNP
Number of alleles fetched
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