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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
3
g.179201379G>A
CA170887
PIK3CA
c.652G>A (p.Glu218Lys)
n.3459G>A
ClinVar
dbSNP
3
g.179201379G>C
CA355276627
PIK3CA
c.652G>C (p.Glu218Gln)
n.3459G>C
dbSNP
gnomAD v4
Number of alleles fetched
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