ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199565
Gene: MTOR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190121
ClinVar RCV Id:
RCV000170355
RCV000224544
RCV000431004
RCV000420307
RCV000441022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004949.1:p.Cys1483Phe
CA199563
NM_004958.4:c.4448G>T