ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.634734C>G
CA254914
c.394C>G (p.Leu132Val)
dbSNP
X
g.634734C>G
CA254913
SHOX
c.394C>G (p.Leu132Val)
ClinVar
dbSNP
Number of alleles fetched
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