ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112828
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0659204995
Score
0.6380127329
Score
0.7553349383
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008255
RCV000413815
RCV000490577
RCV001021326
RCV003332076
ClinVar Variation:
7812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Gly129Glu
CA000431
NM_000314.7:c.386G>A