ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826897505
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142088
ClinVar RCV Id:
RCV000130915
RCV000556721
RCV000486316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291647.1:p.Val172Ile
CA000295
NM_001304718.1:c.514G>A