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  Search Results: 1 unique variant retrieved.



  c.6305G>A
p.(Gly2102Asp) (Legacy AA No.2083)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show