ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057237229
Gene: PTEN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291646.2:p.His234Asp
CA000330
NM_001304717.2:c.700C>G