Allele Registry

Canonical Allele Identifier: PA2827016447

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055513

RCV001814036

ClinVar Variation:

65291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg1499Leu	CA022229 NM_001318831.2:c.4496G>T