Allele Registry

Canonical Allele Identifier: PA2825438570

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189932

RCV000218843

RCV000458406

RCV003996870

ClinVar Variation:

207685

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1409Lys	CA051101 NM_001077183.3:c.4225G>A