Allele Registry

Canonical Allele Identifier: PA2828420677

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189932

RCV000218843

RCV000458406

RCV003996870

ClinVar Variation:

207685

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1433Lys	CA051101 NM_001370405.1:c.4297G>A