ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825959372
Gene: RPTOR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004125647
ClinVar Variation:
2270890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001156506.1:p.Val513Met
CA401423875
NM_001163034.2:c.1537G>A