ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.634687A>G
CA214247
c.347A>G (p.Lys116Arg)
dbSNP
X
g.634687A>G
CA214246
SHOX
c.347A>G (p.Lys116Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Showing alleles 1 - 2 from query results
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