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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.6110494dup
CA357198
FERMT1
c.550dup (p.Ser184LysfsTer2)
n.1012dup
c.-26+1983dup (n.-26+1983dup)
ClinVar
dbSNP
20
g.6110494T=
CA2347807648
FERMT1
c.550A= (p.Ser184=)
n.1012A=
c.-26+1983A= (n.-26+1983A=)
dbSNP
dbSNP
Number of alleles fetched
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