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  Search Results: 1 unique variant retrieved.



  c.1430G>T
p.(Gly477Val) (Legacy AA No.458)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show