ClinGen Allele Registry
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Canonical Allele Identifier:
PA112761
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5530881887
Score
0.2875630936
Score
0.3599790286
Linked Data - NCBI & NCI
ClinVar Allele:
22888
ClinVar RCV:
RCV000008299
RCV000758222
RCV001775539
RCV002390096
RCV003450620
RCV003460437
ClinVar Variation:
7849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Asp252Gly
CA000564
NM_000314.7:c.755A>G