ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.19960988G>T
CA370638702
LPL
c.1227G>T (p.Trp409Cys)
c.167G>T (n.167G>T)
dbSNP
gnomAD v4
8
g.19960988G>A
CA251875
LPL
c.1227G>A (p.Trp409Ter)
c.167G>A (n.167G>A)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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