ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507440
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4765598778
Score
0.3494593522
Score
0.3971220493
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471888
RCV001027175
RCV003449110
ClinVar Variation:
404160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Tyr27Cys
CA16613238
NM_000314.7:c.80A>G