Allele Registry

Canonical Allele Identifier: PA2827015107

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76292

ClinVar RCV:

RCV000055582

RCV000575789

RCV000731274

RCV001083321

RCV004537249

ClinVar Variation:

65358

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser1135Leu	CA019991 NM_001318831.2:c.3404C>T