ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579818075
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6395710202
Score
0.4697138843
Score
0.9792852922
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Glu256Lys
CA377485027
NM_000314.7:c.766G>A