ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.640879G>A
CA16043722
c.544+1G>A (n.544+1G>A)
dbSNP
X
g.640879G>A
CA412231745
SHOX
c.544+1G>A (n.544+1G>A)
ClinVar
dbSNP
Number of alleles fetched
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