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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48474255C>G
CA392319829
FBN1
c.4210G>C (p.Asp1404His)
n.2884G>C
c.882G>C (p.Gln294His)
ClinVar
dbSNP
15
g.48474255C>T
CA014849
FBN1
c.4210G>A (p.Asp1404Asn)
n.2884G>A
c.882G>A (p.Gln294=)
ClinVar
dbSNP
Number of alleles fetched
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