Allele Registry

Canonical Allele Identifier: PA2827012972

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000165847

RCV000531841

RCV001548583

RCV003995458

ClinVar Variation:

186281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg428His	CA016151 NM_001318831.2:c.1283G>A