ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248392
Gene: MTOR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156702
ClinVar RCV Id:
RCV000190280
RCV001836736
RCV002272139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004949.1:p.Thr1977Lys
CA248390
NM_004958.4:c.5930C>A