Allele Registry

Canonical Allele Identifier: PA2827003485

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043020

RCV000177445

RCV000565521

RCV000724630

RCV001086436

ClinVar Variation:

49755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1079Gln	CA019197 NM_001318827.2:c.3236G>A