ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579818012
Gene: PTEN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Asp252Phe
CA891839913
NM_000314.7:c.754_755delinsTT