Allele Registry

Canonical Allele Identifier: PA645431716

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000459248

RCV002411435

ClinVar Variation:

406100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys65Arg	CA16614896 NM_000548.5:c.193T>C