ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248395
Gene: MTOR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156703
ClinVar RCV Id:
RCV000190281
RCV000429373
RCV000477713
RCV000430308
RCV000439373
RCV000422164
RCV000419624
RCV000436863
RCV000440054
RCV001836737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004949.1:p.Ser2215Phe
CA248393
NM_004958.4:c.6644C>T