ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826897516
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682052
ClinVar RCV Id:
RCV003477344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291647.1:p.His179Asp
CA377487304
NM_001304718.1:c.535C>G