ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.853329G>T
CA084207
ELANE
c.292G>T (p.Val98Leu)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
19
g.853329G>A
CA402916032
ELANE
c.292G>A (p.Val98Met)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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