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  Search Results: 1 unique variant retrieved.



  c.599A>G
p.(Glu200Gly) (Legacy AA No.181)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GGA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show