ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579816529
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8097338192
Score
0.8097338192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Glu106Lys
CA377482169
NM_000314.7:c.316G>A