Allele Registry

Canonical Allele Identifier: PA658680952

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000530166

RCV002255448

ClinVar Variation:

467980

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg988His	CA043038 NM_000548.5:c.2963G>A