ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414089
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954178
ClinVar RCV Id:
RCV001226591
RCV002356962
RCV002491716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Glu1300Gly
CA394299251
NM_001370404.1:c.3899A>G