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  Search Results: 1 unique variant retrieved.



  c.57T>G
p.(Ser19Arg) (Legacy AA No.-1)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
AGT > AGG
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show