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  Search Results: 1 unique variant retrieved.



  c.353A>G
p.(His118Arg) (Legacy AA No.99)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show