ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.100407358C>T
CA414003512
PCDH19
c.1240G>A (p.Glu414Lys)
ClinVar
dbSNP
X
g.100407358C>A
CA316342
PCDH19
c.1240G>T (p.Glu414Ter)
ClinVar
dbSNP
Number of alleles fetched
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