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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48515440T>C
CA269559050
FBN1
c.1415A>G (p.Tyr472Cys)
n.89A>G
c.636+22271A>G (n.636+22271A>G)
dbSNP
15
g.48515440T=
CA7547937
FBN1
c.1415A= (p.Tyr472=)
n.89A=
c.636+22271A= (n.636+22271A=)
dbSNP
dbSNP
dbSNP
Number of alleles fetched
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