ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825959381
Gene: RPTOR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001156506.1:p.Thr796Met
CA8825433
NM_001163034.2:c.2387C>T