Allele Registry

Canonical Allele Identifier: PA2827012046

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.His185Arg	CA028650 NM_001318831.2:c.554A>G