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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48510115T>A
CA012380
FBN1
c.1643A>T (p.Asn548Ile)
n.317A>T
c.636+27596A>T (n.636+27596A>T)
ClinVar
dbSNP
15
g.48510115T=
CA2175529889
FBN1
c.1643A= (p.Asn548=)
n.317A=
c.636+27596A= (n.636+27596A=)
dbSNP
Number of alleles fetched
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