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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.134817831G>C
CA320638
COL5A1
c.4230G>C (p.Lys1410Asn)
n.4632G>C
n.4628G>C
ClinVar
dbSNP
9
g.134817831G>A
CA467664009
COL5A1
c.4230G>A (p.Lys1410=)
n.4632G>A
n.4628G>A
dbSNP
Number of alleles fetched
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