ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580429642
Gene: RPTOR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065812.1:p.Thr954Met
CA8825433
NM_020761.3:c.2861C>T