Allele Registry

Canonical Allele Identifier: PA2828093417

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000534200

RCV001574195

RCV002258956

ClinVar Variation:

468020

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Pro1133Ser	CA394289363 NM_001363528.2:c.3397C>T