Allele Registry

Canonical Allele Identifier: PA2827010292

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76298

ClinVar RCV:

RCV000055589

RCV002345361

ClinVar Variation:

65364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu1593Pro	CA021783 NM_001318829.2:c.4778T>C