ClinGen Allele Registry
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Canonical Allele Identifier:
PA645508276
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5464124245
Score
0.5142915741
Score
0.507867404
Linked Data - NCBI & NCI
ClinVar Allele:
233851
ClinVar RCV:
RCV000220547
RCV000471590
RCV002470824
RCV003223628
ClinVar Variation:
233631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Cys124Tyr
CA10578914
NM_000314.7:c.371G>A