ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.634644G>T
CA254923
c.304G>T (p.Glu102Ter)
dbSNP
X
g.634644G>T
CA254922
SHOX
c.304G>T (p.Glu102Ter)
ClinVar
dbSNP
Number of alleles fetched
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