ClinGen Allele Registry
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Canonical Allele Identifier:
PA891845752
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3136860114
Score
0.3308568665
Score
0.2896468142
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000698131
RCV002388286
RCV003479201
ClinVar Variation:
575811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Asp252Val
CA377485003
NM_000314.7:c.755A>T