Allele Registry

Canonical Allele Identifier: PA2829980118

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055293

RCV000163902

RCV000189923

RCV000476957

RCV003153341

RCV003477459

ClinVar Variation:

65083

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1280Val	CA019767 NM_021055.3:c.3839C>T