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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.14203196G>A
CA2470643397
dbSNP
Y
g.14203196G=
CA2470643396
Y
g.14203203G>T
CA2824927688
Y
g.14203216C>A
CA2824927689
Y
g.14203216_14203217delinsCA
CA2470643398
Y
g.14203228dup
CA1139340096
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203227_14203228dup
CA2824927690
Y
g.14203228del
CA1139340098
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203227_14203228del
CA2514782858
gnomAD v3
gnomAD v4
Y
g.14203222A>T
CA1139340101
gnomAD v3
gnomAD v4
Y
g.14203225A>C
CA2824927691
Y
g.14203227A>G
CA2824927692
Y
g.14203227A>T
CA1139340103
gnomAD v3
gnomAD v4
Y
g.14203228A=
CA2470643399
Y
g.14203228A>T
CA337744825
dbSNP
Y
g.14203228_14203229delinsAT
CA2470643400
Y
g.14203229del
CA1139340106
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203229T>A
CA337744826
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203229T=
CA2470643401
Y
g.14203231T>G
CA2546397368
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203234C=
CA2470643402
Y
g.14203234C>T
CA337744827
dbSNP
Y
g.14203235T>C
CA2537789532
Y
g.14203238T>C
CA1139340108
gnomAD v3
gnomAD v4
Y
g.14203243C>A
CA2824927693
Y
g.14203245C>A
CA2538573680
Y
g.14203251C>A
CA2569308836
Y
g.14203251C=
CA2470643403
Y
g.14203251C>T
CA337744828
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203261G>A
CA1139340112
gnomAD v3
gnomAD v4
Y
g.14203266T>G
CA337744829
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203266T=
CA2470643404
Y
g.14203267C>T
CA2589301299
gnomAD v3
gnomAD v4
Y
g.14203273C=
CA2470643405
Y
g.14203273C>T
CA337744830
dbSNP
gnomAD v3
gnomAD v4
Y
g.14203274C>T
CA2544189197
Y
g.14203276A>G
CA2824927694
Y
g.14203280C>A
CA2824927695
Y
g.14203281A>G
CA2824927696
Y
g.14203282T>A
CA2512065433
Y
g.14203285C>T
CA1139340120
gnomAD v3
gnomAD v4
Y
g.14203292C>A
CA2824927697
Number of alleles fetched
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