Allele Registry

Canonical Allele Identifier: PA2828411357

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189982

RCV001012067

RCV001083877

ClinVar Variation:

207717

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu512Val	CA031024 NM_001370404.1:c.1534C>G