ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579819549
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1747840
ClinVar RCV Id:
RCV002349892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Thr401Lys
CA377487485
NM_000314.7:c.1202C>A