ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112958
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8066066859
Score
0.8798374831
Score
0.7333758887
Linked Data - NCBI & NCI
ClinVar Allele:
487475
ClinVar RCV:
RCV000588249
RCV003451331
ClinVar Variation:
495806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Phe341Val
CA377486165
NM_000314.7:c.1021T>G