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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48497391T>G
CA012833
FBN1
c.2168A>C (p.Asp723Ala)
n.842A>C
c.637-22741A>C (n.637-22741A>C)
ClinVar
dbSNP
15
g.48497391T>C
CA392335948
FBN1
c.2168A>G (p.Asp723Gly)
n.842A>G
c.637-22741A>G (n.637-22741A>G)
ClinVar
dbSNP
Number of alleles fetched
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