Data Export Options:
Search Results: 1 unique variant retrieved.
p.Pro194Thr (Legacy AA No. 134)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CCA > ACA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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