Allele Registry

Canonical Allele Identifier: PA2828415686

Gene: TSC2 HGNC NCBI

ClinVar Allele:

50184

ClinVar RCV:

RCV000034662

RCV000054870

RCV000118714

RCV000163420

RCV001084407

RCV002482951

ClinVar Variation:

41745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1730Thr	CA022390 NM_001370404.1:c.5189G>C