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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.
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.49486598_49486600del
CA2263595561
dbSNP
17
g.49486604G>A
CA984394350
dbSNP
gnomAD v3
gnomAD v4
17
g.49486604G=
CA2263595565
17
g.49486604G>T
CA626470574
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.49486605G>A
CA291467937
dbSNP
gnomAD v3
gnomAD v4
17
g.49486605G=
CA2263595566
17
g.49486605G>T
CA2809749866
17
g.49486606C>A
CA2809749867
17
g.49486606C=
CA2263595567
17
g.49486606C>T
CA772724125
dbSNP
17
g.49486609C>A
CA2809749868
17
g.49486611G>C
CA291467940
dbSNP
17
g.49486611G=
CA2263595568
17
g.49486612C>A
CA2809749869
17
g.49486612C=
CA2263595569
17
g.49486612C>T
CA291467942
dbSNP
17
g.49486613C=
CA2263595570
17
g.49486613C>G
CA772724130
dbSNP
gnomAD v3
gnomAD v4
17
g.49486615G>C
CA2263595572
dbSNP
17
g.49486615G=
CA2263595571
17
g.49486618C=
CA2263595573
17
g.49486618C>T
CA2263595574
dbSNP
17
g.49486621A=
CA2263595575
17
g.49486621A>C
CA772724132
dbSNP
gnomAD v3
gnomAD v4
17
g.49486622A=
CA2263595576
17
g.49486622A>C
CA984394355
gnomAD v3
gnomAD v4
17
g.49486622A>G
CA291467944
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.49486627C=
CA2263595577
17
g.49486627C>T
CA2263595578
dbSNP
17
g.49486630A=
CA2263595579
17
g.49486630A>G
CA2263595580
dbSNP
17
g.49486631T>A
CA2263595582
dbSNP
17
g.49486631T=
CA2263595581
17
g.49486632C=
CA2263595583
17
g.49486632C>T
CA2263595584
dbSNP
17
g.49486634T>C
CA2809749870
17
g.49486636G>T
CA2809749871
17
g.49486639T>C
CA291467946
dbSNP
gnomAD v3
gnomAD v4
17
g.49486639T=
CA2263595585
17
g.49486644G>A
CA984394357
dbSNP
gnomAD v3
gnomAD v4
17
g.49486644G=
CA2263595586
17
g.49486648G>A
CA772724134
dbSNP
17
g.49486648G=
CA2263595587
17
g.49486648G>T
CA2809749872
17
g.49486649C=
CA2263595588
17
g.49486649C>T
CA291467948
dbSNP
gnomAD v3
gnomAD v4
17
g.49486649dup
CA919855176
dbSNP
17
g.49486650T>A
CA2263595590
dbSNP
17
g.49486650T>C
CA14380403
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.49486650T>G
CA2263595589
dbSNP
Number of alleles fetched
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