ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680921
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480854
ClinVar RCV Id:
RCV000563535
RCV000924510
RCV001577990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu929Lys
CA041991
NM_000548.5:c.2785G>A