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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.14380645_14380715del
CA2519493909
Y
g.14380667_14380701del
CA2564377079
Y
g.14380691A=
CA2470654967
Y
g.14380691A>G
CA337748719
dbSNP
Y
g.14380692A>G
CA2564810885
Y
g.14380693G>T
CA1139241090
gnomAD v3
gnomAD v4
Y
g.14380694A=
CA2470654968
Y
g.14380694A>G
CA1139241097
dbSNP
gnomAD v3
gnomAD v4
Y
g.14380700T>C
CA337748720
dbSNP
gnomAD v3
gnomAD v4
Y
g.14380700T=
CA2470654969
Y
g.14380709G>C
CA337748721
dbSNP
Y
g.14380709G=
CA2470654970
Y
g.14380715A>G
CA2526604534
Y
g.14380719C>G
CA1139241099
gnomAD v3
gnomAD v4
Y
g.14380721A=
CA2470654971
Y
g.14380721A>G
CA337748722
dbSNP
gnomAD v3
gnomAD v4
Y
g.14380730del
CA2502131604
Y
g.14380727A>G
CA2554224144
Y
g.14380755A>G
CA1139241100
Y
g.14380762G=
CA2470654972
Y
g.14380762G>T
CA1139241106
dbSNP
gnomAD v3
gnomAD v4
Y
g.14380772T>A
CA337748723
dbSNP
gnomAD v3
gnomAD v4
Y
g.14380772T=
CA2470654973
Y
g.14380776G>C
CA1139241114
gnomAD v3
gnomAD v4
Y
g.14380784A=
CA2470654974
Y
g.14380784A>T
CA337748724
dbSNP
Y
g.14380788A=
CA2470654975
Y
g.14380788A>G
CA1139241135
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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