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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.13492804A>G
CA123436
PTH
c.52T>C (p.Cys18Arg)
c.148T>C (p.Cys50Arg)
ClinVar
dbSNP
11
g.13492804A>C
CA379724961
PTH
c.52T>G (p.Cys18Gly)
c.148T>G (p.Cys50Gly)
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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