ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112902
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.1266314542
Score
0.0804188828
Score
0.0545375907
Linked Data - NCBI & NCI
ClinVar Allele:
22871
ClinVar RCV:
RCV000008278
RCV000304615
ClinVar Variation:
7832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Leu112Pro
CA000403
NM_000314.7:c.335T>C