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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855194G>C
CA229669
PAH
c.648C>G (p.Tyr216Ter)
c.633C>G (p.Tyr211Ter)
n.744C>G
ClinVar
dbSNP
gnomAD v4
12
g.102855194G=
CA2059449318
PAH
c.648C= (p.Tyr216=)
c.633C= (p.Tyr211=)
n.744C=
dbSNP
Number of alleles fetched
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