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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
1
g.3682336G>T
CA548896
TP73
c.-30G>T (n.-30G>T)
n.83G>T
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.3682336G>A
CA548895
TP73
c.-30G>A (n.-30G>A)
n.83G>A
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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