ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199565
Gene: MTOR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004949.1:p.Cys1483Phe
NM_004958.4:c.4448G>T