ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580429632
Gene: RPTOR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004134350
ClinVar Variation:
2283702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065812.1:p.Pro657Ala
CA294984565
NM_020761.3:c.1969C>G