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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.855758C>A
CA281501
ELANE
c.561C>A (p.Cys187Ter)
ClinVar
dbSNP
gnomAD v4
19
g.855758C=
CA2317361457
ELANE
c.561C= (p.Cys187=)
dbSNP
Number of alleles fetched
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