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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: CP & Disease: HPS1, 5 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
343744
--
SNV
VUS
4
+
0
343740
--
Dup
B
3
+
0
343749
--
SNV
LB
3
+
0
128841
SNV
LB
3
+
0
128842
--
SNV
LB
3
+
0
5 Results, 20 per Page
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Comparison
Al agent
Tutorials
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