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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.853022G>A
CA281052
ELANE
c.214G>A (p.Val72Met)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
COSMIC
19
g.853022G>C
CA402914946
ELANE
c.214G>C (p.Val72Leu)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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