ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3249407189
Gene: PTEN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291646.4:p.Glu330del
CA2579926929
NM_001304717.5:c.989_991del