ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.38352697A>G
CA224494
OTC
c.1A>G (p.Met1Val)
c.172-313424A>G (n.172-313424A>G)
n.93A>G
ClinVar
dbSNP
X
g.38352697A>T
CA224496
OTC
c.1A>T (p.Met1Leu)
c.172-313424A>T (n.172-313424A>T)
n.93A>T
ClinVar
dbSNP
Number of alleles fetched
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