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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756844A>C
CA16608282
FKRP
c.1394A>C (p.Tyr465Ser)
n.247-4989A>C
n.247+8179A>C
ClinVar
dbSNP
19
g.46756844A=
CA2339067834
FKRP
c.1394A= (p.Tyr465=)
n.247-4989A=
n.247+8179A=
dbSNP
Number of alleles fetched
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