ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579816533
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0196712116
Score
0.8189329291
Score
1.0285839642
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Glu106Gln
CA377482171
NM_000314.7:c.316G>C