ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.853338G>T
CA084287
ELANE
c.301G>T (p.Val101Leu)
dbSNP
gnomAD v4
19
g.853338G>A
CA303943293
ELANE
c.301G>A (p.Val101Met)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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