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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
13
g.32338376dup
CA10589237
BRCA2
c.4021dup (p.Ser1341PhefsTer3)
c.3652dup (p.Ser1218PhefsTer3)
n.4021dup
ClinVar
dbSNP
13
g.32338376del
CA019401
BRCA2
c.4021del (p.Ser1341GlnfsTer?)
c.3652del (p.Ser1218GlnfsTer?)
n.4021del
ClinVar
dbSNP
Number of alleles fetched
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