ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579817031
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8867178505
Score
0.9342428567
Score
0.5065178007
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Glu157Gln
CA377482788
NM_000314.7:c.469G>C