Allele Registry

Canonical Allele Identifier: PA2828094271

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000443899

RCV001022342

RCV001082242

ClinVar Variation:

238046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1385His	CA050956 NM_001363528.2:c.4154G>A