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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.12078422C=
CA2470514521
Y
g.12078422C>T
CA337707806
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078424A>C
CA2568726455
Y
g.12078427A=
CA2470514522
Y
g.12078427A>G
CA2470514523
dbSNP
Y
g.12078441C=
CA2470514524
Y
g.12078441C>G
CA2470514525
dbSNP
Y
g.12078456T>C
CA1139190664
gnomAD v3
gnomAD v4
Y
g.12078459_12078460del
CA2824875458
Y
g.12078462C=
CA2470514526
Y
g.12078462C>T
CA337707807
dbSNP
Y
g.12078466A>G
CA2824875459
Y
g.12078469T>G
CA1139190665
gnomAD v3
gnomAD v4
Y
g.12078479G>A
CA1139190666
gnomAD v3
gnomAD v4
Y
g.12078481G=
CA2470514527
Y
g.12078481G>T
CA337707808
dbSNP
Y
g.12078482G>A
CA1139190667
gnomAD v3
gnomAD v4
Y
g.12078484C>A
CA2824875460
Y
g.12078486A=
CA2470514528
Y
g.12078486A>T
CA2470514529
dbSNP
Y
g.12078488T>C
CA1139190669
gnomAD v3
gnomAD v4
Y
g.12078494T>C
CA2824875461
Y
g.12078496A=
CA2470514530
Y
g.12078496A>T
CA337707809
dbSNP
Y
g.12078506G>A
CA1139190673
gnomAD v3
gnomAD v4
Y
g.12078511G>A
CA1139190679
gnomAD v3
gnomAD v4
Y
g.12078511G>T
CA1139190685
gnomAD v3
gnomAD v4
Y
g.12078519G>A
CA1139190692
gnomAD v3
gnomAD v4
Y
g.12078521C=
CA2470514531
Y
g.12078521C>T
CA1139190696
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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