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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.48595159T>C
CA16621531
COL7A1
c.1A>G (p.Met1Val)
n.37A>G
ClinVar
dbSNP
gnomAD v4
3
g.48595159T=
CA1363089768
COL7A1
c.1A= (p.Met1=)
n.37A=
dbSNP
Number of alleles fetched
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