ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020175
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428268
ClinVar RCV Id:
RCV000491643
RCV000536465
RCV003449278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291647.1:p.Thr80Arg
CA377485523
NM_001304718.1:c.239C>G