Allele Registry

Canonical Allele Identifier: PA2828419546

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190077

RCV000644198

RCV002453704

ClinVar Variation:

207784

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu1099Pro	CA319595 NM_001370405.1:c.3296T>C