Allele Registry

Canonical Allele Identifier: PA319448

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189982

RCV001012067

RCV001083877

ClinVar Variation:

207717

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu512Val	CA031024 NM_000548.5:c.1534C>G