ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.101375202C>A
CA413939515
BTK
n.243G>T
c.83G>T (p.Arg28Leu)
n.396G>T
n.200G>T
c.185G>T (p.Arg62Leu)
ClinVar
dbSNP
X
g.101375202C>T
CA255794
BTK
n.243G>A
c.83G>A (p.Arg28His)
n.396G>A
n.200G>A
c.185G>A (p.Arg62His)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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