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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.75958692G>A
CA256457
IFT43,TGFB3
c.*495C>T (n.*495C>T)
n.2115C>T
n.90-30193G>A
ClinVar
dbSNP
gnomAD v3
gnomAD v4
14
g.75958692G=
CA2147716334
IFT43,TGFB3
c.*495C= (n.*495C=)
n.2115C=
n.90-30193G=
dbSNP
Number of alleles fetched
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