Allele Registry

Canonical Allele Identifier: PA2828420588

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000443899

RCV001022342

RCV001082242

ClinVar Variation:

238046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1408His	CA050956 NM_001370405.1:c.4223G>A