Allele Registry

Canonical Allele Identifier: PA2828421534

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76298

ClinVar RCV:

RCV000055589

RCV002345361

ClinVar Variation:

65364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu1665Pro	CA021783 NM_001370405.1:c.4994T>C