Allele Registry

Canonical Allele Identifier: PA2828093737

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034653

RCV000054864

RCV000122229

RCV000129666

RCV000231518

ClinVar Variation:

41736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ala1231Thr	CA019668 NM_001363528.2:c.3691G>A