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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.853019T>C
CA281057
ELANE
c.211T>C (p.Cys71Arg)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
19
g.853019T=
CA2317359659
ELANE
c.211T= (p.Cys71=)
dbSNP
Number of alleles fetched
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