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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.32337141dup
CA016347
BRCA2
c.2786dup (p.Leu929PhefsTer7)
c.2417dup (p.Leu806PhefsTer7)
n.2786dup
ClinVar
dbSNP
13
g.32337141del
CA016352
BRCA2
c.2786del (p.Leu929TyrfsTer?)
c.2417del (p.Leu806TyrfsTer?)
n.2786del
ClinVar
dbSNP
Number of alleles fetched
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