Allele Registry

Canonical Allele Identifier: PA2827021211

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000522751

RCV000644277

RCV001024028

RCV004003612

RCV004541631

ClinVar Variation:

450528

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1743Leu	CA055299 NM_001318832.2:c.5228C>T